ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3010G>A (p.Val1004Met)

gnomAD frequency: 0.00151  dbSNP: rs79705488
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176688 SCV000228380 likely benign not specified 2018-04-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000965141 SCV001112401 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000965141 SCV001776212 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271857 SCV001453329 likely benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004537409 SCV004744836 likely benign CDH23-related disorder 2020-05-21 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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