ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1907A>G (p.His636Arg) (rs71579374)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172736 SCV000051359 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038810 SCV000062488 likely benign not specified 2016-01-22 criteria provided, single submitter clinical testing p.His636Arg in exon 14 of VCL: This variant is not expected to have clinical sig nificance because it has been identified in 0.67% (44/6604) of Finnish chromosom es by the Exome Aggregation Consortium (ExAC,; db SNP rs71579374).
GeneDx RCV000038810 SCV000236471 likely benign not specified 2017-09-13 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.
Blueprint Genetics RCV000208305 SCV000264316 uncertain significance Primary familial hypertrophic cardiomyopathy 2014-12-11 criteria provided, single submitter clinical testing
Invitae RCV000172736 SCV000289910 benign not provided 2019-01-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252819 SCV000318533 likely benign Cardiovascular phenotype 2019-04-12 criteria provided, single submitter clinical testing Subpopulation frequency in support of benign classification;Other data supporting benign classification
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172736 SCV001147979 uncertain significance not provided 2017-03-01 criteria provided, single submitter clinical testing

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