Medical Genetics Center
(Maternal and Child Health Hospital of Hubei Province)
General information
Medical Genetics Center
Maternal and Child Health Hospital of Hubei Province
Wuhan
China
Organization ID: 509039
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 55
Gene
| Gene | Submissions | Last Updated |
|---|
| ARID1B | 1 | Apr 1, 2023 |
| BBS2 | 2 | Apr 18, 2024 |
| CEP290 | 2 | Apr 18, 2024 |
| CHD7 | 1 | Apr 18, 2024 |
| COL11A2 | 1 | Apr 1, 2023 |
| COL1A1 | 4 | Apr 1, 2023 |
| CPLANE1 | 2 | Apr 1, 2023 |
| EBP | 1 | Apr 1, 2023 |
| EP300 | 1 | Apr 1, 2023 |
| EYA1 | 1 | Apr 1, 2023 |
| FGFR1 | 1 | Apr 1, 2023 |
| FGFR3 | 4 | Apr 1, 2023 |
| GLI3 | 1 | Apr 1, 2023 |
| GREB1L | 1 | Apr 1, 2023 |
| HNF1B | 1 | Apr 1, 2023 |
| INVS | 2 | Apr 1, 2023 |
| KMT2D | 1 | Apr 18, 2024 |
| L1CAM | 1 | Apr 1, 2023 |
| LBR | 2 | Apr 1, 2023 |
| LOC126860403 | 1 | Apr 18, 2024 |
| MKS1 | 2 | Apr 1, 2023 |
| MMP9 | 2 | Apr 1, 2023 |
| MYH3 | 1 | Apr 1, 2023 |
| NPHP3 | 2 | Apr 18, 2024 |
| NPHP3-ACAD11 | 2 | Apr 18, 2024 |
| PDHA1 | 1 | Apr 1, 2023 |
| PKD1 | 2 | Apr 18, 2024 |
| RAF1 | 1 | Apr 1, 2023 |
| RPS19 | 1 | Apr 1, 2023 |
| SMPD4 | 1 | Apr 1, 2023 |
| SOS1 | 1 | Apr 1, 2023 |
| TMEM67 | 2 | Apr 18, 2024 |
| TRIP12 | 1 | Apr 1, 2023 |
| TSC2 | 2 | Apr 1, 2023 |
| TTC21B | 2 | Apr 1, 2023 |
| TTC8 | 2 | Apr 18, 2024 |
| TTN | 2 | Apr 1, 2023 |
| TTN-AS1 | 1 | Apr 1, 2023 |
Condition
| Name | Submissions | Last Updated | | Achondroplasia | 2 | Apr 1, 2023 |
| Asphyxiating thoracic dystrophy 4 | 2 | Apr 1, 2023 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 2 | Apr 1, 2023 |
| Bardet-Biedl syndrome 2 | 2 | Apr 18, 2024 |
| Bardet-Biedl syndrome 8 | 2 | Apr 18, 2024 |
| CHARGE syndrome | 1 | Apr 18, 2024 |
| Chondrodysplasia punctata 2 X-linked dominant | 1 | Apr 1, 2023 |
| Clark-Baraitser syndrome | 1 | Apr 1, 2023 |
| Coffin-Siris syndrome 1 | 1 | Apr 1, 2023 |
| Diamond-Blackfan anemia 1 | 1 | Apr 1, 2023 |
| Fibrochondrogenesis 2 | 1 | Apr 1, 2023 |
| Freeman-Sheldon syndrome | 1 | Apr 1, 2023 |
| Greenberg dysplasia | 2 | Apr 1, 2023 |
| Greig cephalopolysyndactyly syndrome | 1 | Apr 1, 2023 |
| Hartsfield-Bixler-Demyer syndrome | 1 | Apr 1, 2023 |
| Infantile nephronophthisis | 2 | Apr 1, 2023 |
| Joubert syndrome 17 | 2 | Apr 1, 2023 |
| Joubert syndrome 5 | 2 | Apr 18, 2024 |
| Kabuki syndrome 1 | 1 | Apr 18, 2024 |
| Meckel syndrome, type 1 | 2 | Apr 1, 2023 |
| Meckel syndrome, type 3 | 2 | Apr 18, 2024 |
| Metaphyseal anadysplasia 2 | 2 | Apr 1, 2023 |
| NPHP3-related Meckel-like syndrome | 2 | Apr 18, 2024 |
| Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies | 1 | Apr 1, 2023 |
| Noonan syndrome 4 | 1 | Apr 1, 2023 |
| Noonan syndrome 5 | 1 | Apr 1, 2023 |
| Osteogenesis imperfecta type I | 2 | Apr 1, 2023 |
| Osteogenesis imperfecta, perinatal lethal | 2 | Apr 1, 2023 |
| Otofaciocervical syndrome 1 | 1 | Apr 1, 2023 |
| Polycystic kidney disease, adult type | 2 | Apr 18, 2024 |
| Pyruvate dehydrogenase E1-alpha deficiency | 1 | Apr 1, 2023 |
| Renal cysts and diabetes syndrome | 1 | Apr 1, 2023 |
| Renal hypodysplasia/aplasia 3 | 1 | Apr 1, 2023 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Apr 1, 2023 |
| Thanatophoric dysplasia type 1 | 2 | Apr 1, 2023 |
| Tuberous sclerosis 2 | 2 | Apr 1, 2023 |
| X-linked hydrocephalus syndrome | 1 | Apr 1, 2023 |
