ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1263C>T (p.Tyr421=)

gnomAD frequency: 0.00002  dbSNP: rs528720730
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842732 SCV000984763 likely benign not provided 2018-04-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000842732 SCV001667151 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280195 SCV001467355 likely benign Usher syndrome type 1 2020-10-06 no assertion criteria provided clinical testing

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