The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Despite there being a valid 'cspec' property in the messages there's a discrepancy in message contents and CSPEC data: * Message Gene: MT-TS2 CSPEC Genes: [] * Message MONDOs: MONDO:0044970 CSPEC MONDO: []
- No CSPEC computed assertion could be determined for this classification!
Variant: NC_012920.1(MT-CYB):m.12241del
- Curation Version - 1.1
- Curation History
- JSON LD for Version 1.1
CA915952144
690169 (ClinVar)
Gene: MT-TS2
Condition: mitochondrial disease
Inheritance Mode: Mitochondrial inheritance
UUID: 2a4ee240-e4a1-419d-bbfd-d0e83b796214
Approved on: 2023-08-22
Published on: 2024-03-19
HGVS expressions
NC_012920.1:m.12241del
J01415.2:m.12241del
Evidence submitted by expert panel
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. If you have questions about the information contained on this website, please see a health care professional.