ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.2025G>A (p.Val675=) (rs140766884)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242584 SCV000319198 likely benign Cardiovascular phenotype 2015-11-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000030579 SCV000900487 benign Cardiomyopathy 2016-09-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038811 SCV000226317 likely benign not specified 2015-02-10 criteria provided, single submitter clinical testing
GeneDx RCV000038811 SCV000169779 benign not specified 2014-01-24 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.
Integrated Genetics/Laboratory Corporation of America RCV000030579 SCV000053254 benign Cardiomyopathy 2015-06-09 no assertion criteria provided clinical testing
Invitae RCV000232433 SCV000289911 benign Dilated cardiomyopathy 1W 2017-12-29 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038811 SCV000062489 benign not specified 2012-01-19 criteria provided, single submitter clinical testing Val675Val in exon 15 of VCL: This variant is classified as benign based on its h igh frequency in the general population (dbSNP rs140766884; NHLBI Exome Sequenci ng Project, http://evs.gs.washington.edu/EVS).
PreventionGenetics RCV000038811 SCV000312009 likely benign not specified criteria provided, single submitter clinical testing

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