ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1716T>G (p.Leu572=) (rs189781480)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038804 SCV000062482 benign not specified 2015-03-13 criteria provided, single submitter clinical testing p.Leu572Leu in exon 12 of VCL: This variant is not expected to have clinical sig nificance because it has been identified in 0.9% (74/8622) of East Asian chromos omes by the Exome Aggregation Consortium (ExAC,; dbSNP rs189781480).
Ambry Genetics RCV000246440 SCV000317985 likely benign Cardiovascular phenotype 2017-07-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign),Subpopulation frequency in support of benign classification
Illumina Clinical Services Laboratory,Illumina RCV000304483 SCV000364932 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000459056 SCV000559717 benign not provided 2019-02-05 criteria provided, single submitter clinical testing
GeneDx RCV000038804 SCV000724012 likely benign not specified 2017-10-26 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.

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