ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2766C>T (p.Asn922=)

gnomAD frequency: 0.00006  dbSNP: rs371670151
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 RCV000976391 SCV001124292 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272545 SCV001454637 likely benign Usher syndrome type 1 2020-04-24 no assertion criteria provided clinical testing

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