ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5055C>T (p.Ile1685=)

gnomAD frequency: 0.00013  dbSNP: rs377269771
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000910549 SCV001055419 likely benign not provided 2024-01-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273553 SCV001456690 likely benign Usher syndrome type 1 2020-04-16 no assertion criteria provided clinical testing

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