ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4854G>A (p.Thr1618=)

gnomAD frequency: 0.00005  dbSNP: rs376538879
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000929619 SCV001075253 likely benign not provided 2025-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000929619 SCV004126738 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing CDH23: BP4, BP7
Natera, Inc. RCV001273547 SCV001456684 uncertain significance Usher syndrome type 1 2020-03-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004543486 SCV004786870 likely benign CDH23-related disorder 2019-02-26 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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