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
- ClinGen CCDS ACMG Specifications GAMT V2.0.0
- ClinGen CCDS ACMG Specifications GATM V2.0.0
- ClinGen_CCDS_ACMG_Specifications_GAMT_v1.1
- ClinGen_CCDS_ACMG_Specifications_GAMT_v1.1
- ClinGen_CCDS_ACMG_Specifications_GATM_v1.1
- ClinGen_CCDS_ACMG_Specifications_GATM_v1.1
- ClinGen_CCDS_ACMG_Specifications_SLC6A8_v1.1
- ClinGen_CCDS_ACMG_Specifications_SLC6A8_v1.1
Summary of submissions to ClinVar
Total submissions: 347
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| GAMT | 121 | Dec 15, 2025 |
| GATM | 55 | Dec 15, 2025 |
| LOC130056991 | 1 | Mar 29, 2023 |
| LOC130062945 | 23 | Dec 15, 2025 |
| NDUFS7 | 1 | Nov 9, 2022 |
| SLC6A8 | 171 | Dec 15, 2025 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Arginine:glycine amidinotransferase deficiency | 55 | Dec 15, 2025 |
| Creatine transporter deficiency | 171 | Dec 15, 2025 |
| Deficiency of guanidinoacetate methyltransferase | 121 | Dec 15, 2025 |