ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) (rs111033487)

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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 RCV000039201 SCV000062885 likely benign not specified 2015-07-02 criteria provided, single submitter clinical testing p.Ile1710Ile in exon 40 of CDH23: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, has been identified in 0.3% (34/9808) of Afri can chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins; dbSNP rs111033487).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723698 SCV000114031 uncertain significance not provided 2017-02-21 criteria provided, single submitter clinical testing
Invitae RCV000723698 SCV001052567 benign not provided 2020-12-04 criteria provided, single submitter clinical testing
GeneDx RCV000723698 SCV001818441 likely benign not provided 2021-06-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273554 SCV001456691 uncertain significance Usher syndrome type 1 2020-04-16 no assertion criteria provided clinical testing

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