ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1317T>C (p.Ser439=) (rs71579355)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038793 SCV000062471 benign not specified 2012-03-16 criteria provided, single submitter clinical testing Ser439Ser in exon 10 of VCL: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and has been identified in 0.5% (37/7020) of European American chromosomes from a broad population by t he NHLBI Exome Sequencing Project (; dbSNP rs715 79355).
GeneDx RCV000038793 SCV000169794 benign not specified 2014-01-30 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038793 SCV000225014 benign not specified 2015-03-12 criteria provided, single submitter clinical testing
Invitae RCV000231042 SCV000289905 benign not provided 2019-03-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000253399 SCV000318997 benign Cardiovascular phenotype 2016-09-01 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
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769108 SCV000900481 benign Cardiomyopathy 2017-02-28 criteria provided, single submitter clinical testing

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