ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.738C>T (p.Tyr246=)

gnomAD frequency: 0.00006  dbSNP: rs745668474
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000942215 SCV001088135 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000942215 SCV004704272 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CDH23: BP4, BP7
Natera, Inc. RCV001280191 SCV001467351 likely benign Usher syndrome type 1 2020-10-28 no assertion criteria provided clinical testing

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