The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Curation History

Showing 1 to 3 of 3 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
Uncertain Significance
Usher syndrome2024-04-01
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 2USH2A
View NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp)
Uncertain Significance
Usher syndrome2024-03-28
1.1
-USH2A
View NM_206933.3(USH2A):c.9921T>G (p.Cys3307Trp)
Uncertain Significance
Usher syndrome2019-10-23
1.0
-USH2A
Showing 1 to 3 of 3 rows
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