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: [email protected] - Jennifer Goldstein, Contact
Phone: 919 966 5705
Email: [email protected]
Assertion criteria
Level: Expert panel
- ClinGen CCDS ACMG Specifications GAMT 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: 292
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| GAMT | 99 | Jan 2, 2025 |
| GATM | 55 | Jan 2, 2025 |
| LOC130056991 | 1 | Mar 29, 2023 |
| LOC130062945 | 21 | Jan 2, 2025 |
| NDUFS7 | 1 | Nov 9, 2022 |
| SLC6A8 | 138 | Jan 2, 2025 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Arginine:glycine amidinotransferase deficiency | 55 | Jan 2, 2025 |
| Creatine transporter deficiency | 138 | Jan 2, 2025 |
| Deficiency of guanidinoacetate methyltransferase | 99 | Jan 2, 2025 |