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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) | Pathogenic | nonsyndromic genetic deafness | 2023-06-30 | 1.0 | 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 |
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