ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu) (rs876657422)

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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 RCV000214886 SCV000268855 benign not specified 2016-03-03 criteria provided, single submitter clinical testing c.8120_8121delinsTT (p.Pro2707Leu) in exon 57 of CDH23: This variant is not exp ected to have clinical significance because it has been identified in 1% (86/832 4) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http:// exac.broadinstitute.org; dbSNP rs377535432 and rs373230009).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000214886 SCV000702104 benign not specified 2016-11-04 criteria provided, single submitter clinical testing
GeneDx RCV000214886 SCV000723796 likely benign not specified 2017-11-10 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 RCV000941411 SCV001087297 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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