Robert's Program (Boston Children's Hospital)
General information
Personnel
- Christine Keywan, Genetic Counselor
Phone: 617-919-4513
Email: [email protected]
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 39
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| AKAP10 | 1 | Dec 3, 2021 |
| ALG13 | 1 | Dec 3, 2021 |
| ANKRD11 | 1 | Dec 3, 2021 |
| BRPF1 | 2 | Dec 3, 2021 |
| CACNA1A | 1 | Dec 3, 2021 |
| CAV3 | 1 | Dec 3, 2021 |
| CEP85L | 1 | Dec 3, 2021 |
| DEPDC5 | 2 | Dec 3, 2021 |
| DYRK1A | 1 | Dec 3, 2021 |
| FLNA | 1 | Dec 3, 2021 |
| FLNC | 1 | Dec 3, 2021 |
| GABRB3 | 1 | Dec 3, 2021 |
| GABRG2 | 1 | Dec 3, 2021 |
| GH-LCR | 1 | Dec 3, 2021 |
| KCNE1 | 1 | Dec 3, 2021 |
| KCNJ2 | 1 | Dec 3, 2021 |
| LOC102724058 | 2 | Dec 3, 2021 |
| MYBPC3 | 2 | Dec 3, 2021 |
| OXTR | 1 | Dec 3, 2021 |
| PDHA1 | 1 | Dec 3, 2021 |
| PLN | 1 | Dec 3, 2021 |
| SCN1A | 4 | Dec 3, 2021 |
| SCN4A | 1 | Dec 3, 2021 |
| SCN5A | 5 | Dec 3, 2021 |
| SCN8A | 1 | Dec 3, 2021 |
| TCF4 | 1 | Dec 3, 2021 |
| TNNI3 | 2 | Dec 3, 2021 |
| TTN | 5 | Dec 3, 2021 |
| TTN-AS1 | 4 | Dec 3, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Conduction disorder of the heart | 1 | Jan 24, 2020 |
| Intellectual developmental disorder with dysmorphic facies and ptosis | 1 | Feb 1, 2020 |
| SUDDEN INFANT DEATH SYNDROME | 31 | Dec 3, 2021 |
| Sudden unexplained death in childhood | 6 | Dec 3, 2021 |