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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) | Likely Pathogenic | Usher syndrome | 2024-09-27 | 1.2 | 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 | MYO7A |
View | NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) | Likely Pathogenic | Usher syndrome | 2024-09-24 | 1.1 | 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 | MYO7A |
View | NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) | Likely Pathogenic | Usher syndrome | 2020-06-23 | 1.0 | - | MYO7A |
Showing 1 to 3 of 3 rows