The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- There was no gene found in the curated document received from the VCI/VCEP
- Gene listed was thus derived from ClinVar and/or CAR
- No CSPEC related information was provided by the message!
- See Evidence submitted by expert panel for details.
Variant: NC_012920.1:m.9205_9206del
CA120599
9646 (ClinVar)
Gene: N/A
Condition: mitochondrial disease
Inheritance Mode: Mitochondrial inheritance
UUID: a29092c4-248c-4d4c-8b2b-e2145be5b4af
Approved on: 2022-06-30
Published on: 2022-06-30
HGVS expressions
NC_012920.1:m.9205_9206del
J01415.2:m.9205_9206del
ENST00000361899.2:n.679_680del
Evidence submitted by expert panel
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