ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1317C>T (p.Asp439=)

gnomAD frequency: 0.00002  dbSNP: rs748828988
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000979387 SCV001127328 likely benign not provided 2024-02-09 criteria provided, single submitter clinical testing
GeneDx RCV000979387 SCV002558183 uncertain significance not provided 2022-02-01 criteria provided, single submitter clinical testing In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001271843 SCV001453315 likely benign Usher syndrome type 1 2020-09-16 no assertion criteria provided clinical testing

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