ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7086C>T (p.Tyr2362=)

gnomAD frequency: 0.00001  dbSNP: rs1287792582
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 RCV000931676 SCV001077347 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV000931676 SCV001796761 likely benign not provided 2019-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276038 SCV001461866 likely benign Usher syndrome type 1 2020-04-27 no assertion criteria provided clinical testing

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