ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val) (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, Partners HealthCare 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,; dbSNP rs111033492).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000039243 SCV000230791 likely benign not specified 2016-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000839250 SCV000981140 likely benign not provided 2018-04-02 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000839250 SCV001108201 likely benign not provided 2020-11-20 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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