ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5051G>A (p.Arg1684His)

dbSNP: rs111033475
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899080 SCV001043329 likely benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000899080 SCV002028270 likely benign not provided 2021-03-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28413019)
Breakthrough Genomics, Breakthrough Genomics RCV000899080 SCV005228213 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001830959 SCV002089330 likely benign Usher syndrome type 1 2020-09-15 no assertion criteria provided clinical testing

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