ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1407C>T (p.Ala469=) (rs2229507)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251434 SCV000317932 benign Cardiovascular phenotype 2015-06-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000038795 SCV000169796 benign not specified 2013-04-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000408187 SCV000364925 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000471871 SCV000559707 benign Dilated cardiomyopathy 1W 2017-08-07 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038795 SCV000062473 benign not specified 2008-12-04 criteria provided, single submitter clinical testing
PreventionGenetics RCV000038795 SCV000312007 benign not specified criteria provided, single submitter clinical testing

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