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
- The variant label for this record ("NC_012920.1(MT-ND6"):m.14513_14514del) does not appear to be in HGVS format
Variant: NC_012920.1(MT-ND6):m.14513_14514del
CA915952148
800503 (ClinVar)
Gene: N/A
Condition: mitochondrial disease
Inheritance Mode: Mitochondrial inheritance
UUID: 693e8f8b-8f0b-4970-9e4d-ab826bec1ffd
Approved on: 2023-12-21
Published on: 2024-03-15
HGVS expressions
NC_012920.1:m.14513_14514del
J01415.2:m.14513_14514del
ENST00000361681.2:c.161_162del
Evidence submitted by expert panel
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