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Eurofins-Biomnis, Biomnis

General information

Eurofins-Biomnis, Biomnis

17/19 avenue Tony Garnier
Lyon
France - 69357

Organization ID: 508486

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 107

Gene

GeneSubmissionsLast Updated
ABCB111Jun 11, 2023
ADNP1Jun 11, 2023
AGXT1Jun 11, 2023
ARID1B1Jun 11, 2023
ATM1Jun 11, 2023
ATP1A31Jun 11, 2023
AURKC1May 2, 2023
BBS21Jun 11, 2023
BMP21Jun 11, 2023
BRCA21Jun 11, 2023
C11orf651Jun 11, 2023
CAMK2B1Jun 11, 2023
CAPN32Jun 11, 2023
CFTR2Jun 11, 2023
CHD21Jun 11, 2023
CHD71Jun 11, 2023
COL2A11Jun 11, 2023
COL4A38Jun 11, 2023
COL4A44Jun 11, 2023
COL4A56Jun 11, 2023
CPT21Jun 11, 2023
CSGALNACT11Jun 11, 2023
CSNK2A11Jun 11, 2023
CTRC1Jun 11, 2023
CUBN3Jun 11, 2023
CUL4B1Jun 11, 2023
CYBA1Jun 11, 2023
DIPK1A1Jun 11, 2023
DLL11Jun 11, 2023
GALNT31Jun 11, 2023
GHR1Jun 11, 2023
GREB1L1Jun 11, 2023
GRIA31Jun 11, 2023
HK11Jun 11, 2023
HPSE22Jun 11, 2023
IFT1402Jun 11, 2023
INF21Jun 11, 2023
JAG11Jun 11, 2023
JAK32Jun 11, 2023
KMT2B1Jun 11, 2023
KMT2D1Jun 11, 2023
L1CAM1Jun 11, 2023
LAMA11Jun 11, 2023
LMNA1Jun 11, 2023
LOC1053710461Jun 11, 2023
LOC1116744721Jun 11, 2023
LOC1300044081Jun 11, 2023
LZTR11Jun 11, 2023
MECP23Jun 11, 2023
MFF-DT8Jun 11, 2023
MMACHC1Jun 11, 2023
MN11Jun 11, 2023
MRAS1Jun 11, 2023
MTOR1Jun 11, 2023
MUC11Jun 11, 2023
NF12Jun 11, 2023
NPHP31Jun 11, 2023
NPHP3-ACAD111Jun 11, 2023
NPHP41Jun 11, 2023
NSD11Jun 11, 2023
PACS11Jun 11, 2023
PKD18Jun 11, 2023
PKD21Jun 11, 2023
POLR1C1Jun 11, 2023
PTCHD11Jun 11, 2023
PTEN1Jun 11, 2023
PTPN111Jun 11, 2023
RPL51Jun 11, 2023
SMAD41Jun 11, 2023
SMARCC21Jun 11, 2023
SPAST1Jun 11, 2023
SPEN1Jun 11, 2023
SPINK11Jun 11, 2023
SRY1Jun 11, 2023
TAF11Jun 11, 2023
TCTN31Jun 11, 2023
TNFRSF1A1Jun 11, 2023
TRPC61Jun 11, 2023
TTC21B1Jun 11, 2023
TTC21B-AS11Jun 11, 2023
UMOD1Jun 11, 2023
VDR1Jun 11, 2023
ZNF2921Jun 11, 2023

Condition

NameSubmissionsLast Updated
46,XX sex reversal 11Jun 11, 2023
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1Jun 11, 2023
Alagille syndrome due to a JAG1 point mutation1Jun 11, 2023
Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome1Jun 11, 2023
Autism, susceptibility to, X-linked 41Jun 11, 2023
Autosomal dominant Alport syndrome1Jun 11, 2023
Autosomal recessive Alport syndrome8Jun 11, 2023
Autosomal recessive limb-girdle muscular dystrophy type 2A2Jun 11, 2023
Bardet-Biedl syndrome 21Jun 11, 2023
Benign familial hematuria3Jun 11, 2023
CEBALID syndrome1Jun 11, 2023
CHARGE association1Jun 11, 2023
Carnitine palmitoyl transferase II deficiency, severe infantile form1Jun 11, 2023
Charcot-Marie-Tooth disease type 2B11Jun 11, 2023
Cobalamin C disease1Jun 11, 2023
Coffin-Siris syndrome 11Jun 11, 2023
Coffin-Siris syndrome 81Jun 11, 2023
Cystic fibrosis1Jun 11, 2023
Developmental and epileptic encephalopathy 941Jun 11, 2023
Developmental and epileptic encephalopathy 991Jun 11, 2023
Diamond-Blackfan anemia 61Jun 11, 2023
Familial cancer of breast2Jun 11, 2023
Familial juvenile hyperuricemic nephropathy type 11Jun 11, 2023
Focal segmental glomerulosclerosis 21Jun 11, 2023
Focal segmental glomerulosclerosis 51Jun 11, 2023
Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1Jun 11, 2023
Hereditary pancreatitis3Jun 11, 2023
Hereditary spastic paraplegia 41Jun 11, 2023
Hypomyelinating leukodystrophy 111Jun 11, 2023
Infertility associated with multi-tailed spermatozoa and excessive DNA1May 2, 2023
Intellectual developmental disorder, autosomal dominant 641Jun 11, 2023
Intellectual developmental disorder, autosomal dominant 681Jun 11, 2023
Intellectual disability, X-linked, syndromic 331Jun 11, 2023
Intellectual disability, autosomal dominant 541Jun 11, 2023
Joubert syndrome 181Jun 11, 2023
Kabuki syndrome 11Jun 11, 2023
Laron-type isolated somatotropin defect1Jun 11, 2023
Macrocephaly-autism syndrome1Jun 11, 2023
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome1Jun 11, 2023
Myhre syndrome1Jun 11, 2023
Nephronophthisis 121Jun 11, 2023
Nephronophthisis 31Jun 11, 2023
Nephronophthisis 41Jun 11, 2023
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures1Jun 11, 2023
Neurodevelopmental disorder with visual defects and brain anomalies1Jun 11, 2023
Neurofibromatosis, type 12Jun 11, 2023
Noonan syndrome 11Jun 11, 2023
Noonan syndrome 111Jun 11, 2023
Okur-Chung neurodevelopmental syndrome1Jun 11, 2023
Polycystic kidney disease 21Jun 11, 2023
Polycystic kidney disease, adult type8Jun 11, 2023
Primary hyperoxaluria, type I1Jun 11, 2023
Progressive familial intrahepatic cholestasis type 21Jun 11, 2023
Proteinuria, chronic benign3Jun 11, 2023
Radio-Tartaglia syndrome1Jun 11, 2023
Renal hypodysplasia/aplasia 31Jun 11, 2023
Rett syndrome1Jun 11, 2023
Saldino-Mainzer syndrome2Jun 11, 2023
Schuurs-Hoeijmakers syndrome1Jun 11, 2023
Schwannomatosis 21Jun 11, 2023
Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 11Jun 11, 2023
Skeletal dysplasia, mild, with joint laxity and advanced bone age1Jun 11, 2023
Sotos syndrome1Jun 11, 2023
Stickler syndrome type 11Jun 11, 2023
Syndromic X-linked intellectual disability 941Jun 11, 2023
T-B+ severe combined immunodeficiency due to JAK3 deficiency2Jun 11, 2023
TNF receptor-associated periodic fever syndrome (TRAPS)1Jun 11, 2023
Tubulointerstitial kidney disease, autosomal dominant, 21Jun 11, 2023
Tumoral calcinosis, hyperphosphatemic, familial, 11Jun 11, 2023
Urofacial syndrome type 12Jun 11, 2023
Vitamin D-dependent rickets type II with alopecia1Jun 11, 2023
X-linked Alport syndrome6Jun 11, 2023
X-linked complicated corpus callosum dysgenesis1Jun 11, 2023
X-linked intellectual disability Cabezas type1Jun 11, 2023
X-linked intellectual disability-psychosis-macroorchidism syndrome2Jun 11, 2023