ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) (rs111033494)

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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 RCV000039249 SCV000062933 benign not specified 2014-03-15 criteria provided, single submitter clinical testing Ile2199Asn in Exon 48 of CDH23: This variant is not expected to have clinical si gnificance because it has been identified in 1.1% (48/4360) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/) and 1.9% (9/481) of African or African American chromosomes by the 1000 Ge nome Project (http://www.1000genomes.org/; dbSNP rs111033494).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039249 SCV000230793 benign not specified 2014-09-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000755911 SCV000883561 benign not provided 2017-07-18 criteria provided, single submitter clinical testing
GeneDx RCV000755911 SCV000981141 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 RCV000755911 SCV001108202 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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