ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel (ClinGen), ClinGen CCDS VCEP
FDA Recognized Database
General information
ClinGen Cerebral Creatine Deficiency Syndromes Variant Curation Expert Panel, ClinGen CCDS VCEP
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50047/
Organization ID: 508816
ClinGen
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/50047/
Organization ID: 508816
Personnel
- Saadet Andrews, Contact
Phone: 780 407 2533
Email: saadet@ualberta.ca - Jennifer Goldstein, Contact
Phone: 919 966 5705
Email: jennifer.goldstein@unc.edu
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 244
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| GAMT | 84 | Jan 4, 2024 |
| GATM | 45 | Mar 29, 2023 |
| LOC130056991 | 1 | Mar 29, 2023 |
| LOC130062945 | 19 | Jan 4, 2024 |
| NDUFS7 | 1 | Nov 9, 2022 |
| SLC6A8 | 115 | Apr 4, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Arginine:glycine amidinotransferase deficiency | 43 | Mar 29, 2023 |
| Cerebral creatine deficiency syndrome | 2 | Mar 29, 2023 |
| Creatine transporter deficiency | 115 | Apr 4, 2024 |
| Deficiency of guanidinoacetate methyltransferase | 84 | Jan 4, 2024 |