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: CA5544361 444219
VCEP: Hearing Loss VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_022124.5(CDH23):c.2866G>A (p.Glu956Lys) | Pathogenic | sensorineural hearing loss disorder | 2023-10-05 | 2.1 | ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2 | CDH23 |
| View | NM_022124.5(CDH23):c.2866G>A (p.Glu956Lys) | Pathogenic | sensorineural hearing loss disorder | 2023-08-25 | 2.0 | - | CDH23 |
| View | NM_022124.5(CDH23):c.2866G>A (p.Glu956Lys) | Likely Pathogenic | sensorineural hearing loss disorder | 2020-11-02 | 1.1 | - | CDH23 |
| View | NM_022124.5(CDH23):c.2866G>A (p.Glu956Lys) | Likely Pathogenic | sensorineural hearing loss disorder | 2019-08-16 | 1.0 | - | CDH23 |
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