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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) | Likely Pathogenic | Usher syndrome | 2024-04-01 | 2.0 | 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 | USH2A |
| View | NM_206933.3(USH2A):c.12574C>T (p.Arg4192Cys) | Uncertain Significance | Usher syndrome | 2020-01-22 | 1.0 | - | USH2A |
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