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: 264
Gene
Gene | Submissions | Last Updated |
---|---|---|
GAMT | 88 | Jul 25, 2024 |
GATM | 45 | Jul 25, 2024 |
LOC130056991 | 1 | Mar 29, 2023 |
LOC130062945 | 20 | Jul 25, 2024 |
NDUFS7 | 1 | Nov 9, 2022 |
SLC6A8 | 131 | Jul 25, 2024 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Arginine:glycine amidinotransferase deficiency | 45 | Jul 25, 2024 |
Creatine transporter deficiency | 131 | Jul 25, 2024 |
Deficiency of guanidinoacetate methyltransferase | 88 | Jul 25, 2024 |