Laboratory Genomica (Gynecology and Assisted Reproduction Hospital Malinov DM), Genomica Lab
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 21
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ACTA2 | 1 | Jan 26, 2021 |
| APC | 1 | Apr 19, 2016 |
| ASCC1 | 1 | Feb 13, 2019 |
| CACNA1C | 1 | Jan 26, 2021 |
| CAPN5 | 1 | Apr 21, 2020 |
| COL1A1 | 1 | Jun 21, 2016 |
| CYP11B1 | 2 | Jan 26, 2021 |
| DMD | 1 | Apr 19, 2016 |
| ELN | 1 | Jan 26, 2021 |
| EP300 | 1 | Apr 22, 2016 |
| FANCD2 | 1 | May 8, 2020 |
| GPHN | 1 | Apr 20, 2020 |
| LOC106799833 | 2 | Jan 26, 2021 |
| LOC107303338 | 1 | May 8, 2020 |
| MTOR | 1 | Apr 20, 2019 |
| NPC1 | 2 | Jan 25, 2021 |
| PAX3 | 1 | Apr 22, 2016 |
| PKHD1 | 1 | Mar 31, 2020 |
| POLD1 | 1 | Jan 27, 2021 |
| RELN | 1 | Apr 19, 2016 |
| RPS6KA3 | 1 | Apr 19, 2016 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Aortic aneurysm, familial thoracic 6 | 1 | Jan 26, 2021 |
| Autosomal recessive polycystic kidney disease | 1 | Mar 31, 2020 |
| Coffin-Lowry syndrome | 1 | Apr 19, 2016 |
| Concentric hypertrophic cardiomyopathy | 1 | Jan 26, 2021 |
| Deficiency of steroid 11-beta-monooxygenase | 2 | Jan 26, 2021 |
| Duchenne muscular dystrophy | 1 | Apr 19, 2016 |
| Familial adenomatous polyposis 1 | 1 | Apr 19, 2016 |
| Fanconi anemia complementation group D2 | 1 | May 8, 2020 |
| Macrocephaly | 1 | Apr 20, 2019 |
| Mandibular hypoplasia-deafness-progeroid syndrome | 1 | Jan 27, 2021 |
| Niemann-Pick disease, type C1 | 2 | Jan 25, 2021 |
| Norman-Roberts syndrome | 1 | Apr 19, 2016 |
| Osteogenesis imperfecta type I | 1 | Jun 21, 2016 |
| Proliferative vitreoretinopathy | 1 | Apr 21, 2020 |
| Rubinstein-Taybi syndrome due to EP300 haploinsufficiency | 1 | Apr 22, 2016 |
| Seizure | 1 | Apr 20, 2020 |
| Spinal muscular atrophy with congenital bone fractures 2 | 1 | Feb 13, 2019 |
| Supravalvar aortic stenosis | 1 | Jan 26, 2021 |
| Waardenburg syndrome type 1 | 1 | Apr 22, 2016 |