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 4 of 4 rows
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 disorder2023-10-05
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 2CDH23
View NM_022124.5(CDH23):c.2866G>A (p.Glu956Lys)
Pathogenic
sensorineural hearing loss disorder2023-08-25
2.0
-CDH23
View NM_022124.5(CDH23):c.2866G>A (p.Glu956Lys)
Likely Pathogenic
sensorineural hearing loss disorder2020-11-02
1.1
-CDH23
View NM_022124.5(CDH23):c.2866G>A (p.Glu956Lys)
Likely Pathogenic
sensorineural hearing loss disorder2019-08-16
1.0
-CDH23
Showing 1 to 4 of 4 rows
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