The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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- Gene obtained from curated document aligns with ClinVar but not with the Allele Registry data
Variant: NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del)
- Curation Version - 2.1
- Curation History
- JSON LD for Version 2.1
208366 (ClinVar)
Gene: KCNQ4
Condition: nonsyndromic genetic deafness
Inheritance Mode: Autosomal dominant inheritance
UUID: fb0e0e45-d5c2-4b0f-8f5f-3d89cb430f20
Approved on: 2023-06-27
Published on: 2023-10-05
HGVS expressions
NM_004700.4:c.803_805CCT[1]
NM_004700.4(KCNQ4):c.803_805CCT[1] (p.Ser269del)
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del)
Evidence submitted by expert panel
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