ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6855C>T (p.Asp2285=)

gnomAD frequency: 0.00003  dbSNP: rs750385396
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 RCV000924062 SCV001069565 likely benign not provided 2023-12-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275583 SCV001460832 likely benign Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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