ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1446C>A (p.Val482=) (rs200324241)

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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, Partners HealthCare Personalized Medicine RCV000039102 SCV000062784 likely benign not specified 2014-08-11 criteria provided, single submitter clinical testing Val482Val in Exon 14A of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 2/4254 African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs200324241).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726725 SCV000702446 uncertain significance not provided 2016-11-11 criteria provided, single submitter clinical testing
Invitae RCV000726725 SCV001055151 likely benign not provided 2020-11-21 criteria provided, single submitter clinical testing
GeneDx RCV000726725 SCV001768125 likely benign not provided 2021-03-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275926 SCV001461606 likely benign Usher syndrome type 1 2020-04-24 no assertion criteria provided clinical testing

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