GenomeConnect - CFC International
Personnel
- Juliann Savatt, Staff
Phone: 570-214-1721
Email: [email protected]
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 34
Gene
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cardio-facio-cutaneous syndrome | 8 | Nov 1, 2024 |
| Cardiofaciocutaneous syndrome 1 | 5 | Nov 1, 2024 |
| Cardiofaciocutaneous syndrome 3 | 2 | Dec 29, 2021 |
| Cardiofaciocutaneous syndrome 4 | 1 | Jan 1, 2022 |
| LEOPARD syndrome 3 | 1 | Nov 1, 2024 |
| MAP2K1-related disorder | 1 | Oct 1, 2019 |
| Martsolf syndrome 1 | 1 | Nov 1, 2024 |
| Microcephaly and chorioretinopathy 1 | 1 | Oct 1, 2019 |
| Mitochondrial DNA-Associated Leigh Syndrome and NARP | 1 | Dec 29, 2021 |
| Noonan syndrome | 1 | Nov 1, 2024 |
| Noonan syndrome 1 | 2 | Jan 1, 2022 |
| Noonan syndrome 3 | 1 | Oct 1, 2019 |
| Noonan syndrome 7 | 1 | Nov 1, 2024 |
| RASopathy | 2 | Jan 1, 2022 |
| Warburg micro syndrome 2 | 1 | Nov 1, 2024 |
| not provided | 10 | Jan 1, 2022 |