ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.945C>A (p.Gly315=) (rs61731180)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038841 SCV000062519 benign not specified 2012-01-06 criteria provided, single submitter clinical testing Gly315Gly in exon 8 of VCL: This variant is classified as benign because it does not change the amino acid and is frequent in the general population (rs61731180 , MAF >1%).
GeneDx RCV000038841 SCV000169791 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.
PreventionGenetics,PreventionGenetics RCV000038841 SCV000312016 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000249265 SCV000318206 benign Cardiovascular phenotype 2015-07-02 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
Illumina Clinical Services Laboratory,Illumina RCV000289794 SCV000364920 likely benign Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000475462 SCV000559719 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770296 SCV000901728 benign Cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing

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