ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8913C>T (p.Phe2971=)

gnomAD frequency: 0.00005  dbSNP: rs915502924
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 RCV000929313 SCV001074941 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832106 SCV002092010 likely benign Usher syndrome type 1 2020-10-07 no assertion criteria provided clinical testing

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