ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.3333T>C (p.Ala1111=) (rs147415627)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243882 SCV000319954 likely benign Cardiovascular phenotype 2015-07-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000126285 SCV000169786 benign not specified 2014-01-03 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.
Invitae RCV000466465 SCV000559709 benign Dilated cardiomyopathy 1W 2017-08-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000126285 SCV000271186 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Ala1111Ala in Exon 22 of VCL: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue and is not located wi thin the splice consensus sequence. It has been identified in 1/7020 European Am erican chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washingt on.edu/EVS; dbSNP rs147415627).

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