ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) (rs201887949)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039241 SCV000062925 benign not specified 2015-11-23 criteria provided, single submitter clinical testing p.Arg2066Gln in exon 47 of CDH23: This variant is not expected to have clinical significance because it has been identified in 4.6% (727/158960) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut; dbSNP rs201887949).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039241 SCV000230749 benign not specified 2015-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000839198 SCV000981084 benign not provided 2018-03-21 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 RCV000839198 SCV001057503 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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