ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.414C>T (p.Ser138=)

gnomAD frequency: 0.00002  dbSNP: rs745908110
Minimum review status: Collection method:
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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 RCV000977207 SCV001125121 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832240 SCV002086701 likely benign Usher syndrome type 1 2020-10-13 no assertion criteria provided clinical testing

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