The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA415076214 572616
VCEP: Cerebral Creatine Deficiency Syndromes VCEP
Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) | Uncertain Significance | creatine transporter deficiency | 2024-11-13 | 1.1 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1.1.0 | SLC6A8 |
| View | NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) | Uncertain Significance | creatine transporter deficiency | 2022-10-08 | 1.0 | ClinGen Cerebral Creatine Deficiency Syndromes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SLC6A8 Version 1 | SLC6A8 |
Showing 1 to 2 of 2 rows