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_000005.10:g.(?_112775619)_(112801393_?)del
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
642643 (ClinVar)
Gene: APC
Condition: familial adenomatous polyposis 1
Inheritance Mode: Autosomal dominant inheritance
UUID: 5bee178f-c9b5-4102-8807-f297a0daa4ec
Approved on: 2023-02-26
Published on: 2023-03-14
HGVS expressions
NC_000005.10:g.(?_112775619)_(112801393_?)del
Evidence submitted by expert panel
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