ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val)

gnomAD frequency: 0.00150  dbSNP: rs111033492
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039243 SCV000062927 likely benign not specified 2015-10-22 criteria provided, single submitter clinical testing p.Ala2110Val in exon 48 of CDH23 : This variant is not expected to have clinical significance because it has been identified in 0.6% (55/9526) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs111033492).
Eurofins Ntd Llc (ga) RCV000039243 SCV000230791 likely benign not specified 2016-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000839250 SCV000981140 likely benign not provided 2020-12-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 21569298, 26969326)
Labcorp Genetics (formerly Invitae), Labcorp RCV000839250 SCV001108201 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275571 SCV001460820 likely benign Usher syndrome type 1 2020-04-17 no assertion criteria provided clinical testing

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