ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val)

dbSNP: rs573057228
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000152950 SCV000202382 uncertain significance not provided 2014-01-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000152950 SCV001087771 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275570 SCV001460819 likely benign Usher syndrome type 1 2020-04-27 no assertion criteria provided clinical testing

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