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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Curation History
Variant: CA245543 197422
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) | Likely Benign | Usher syndrome | 2019-10-29 | 1.0 | - | CDH23 |
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