ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1626C>T (p.Leu542=) (rs150402791)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756898 SCV000884870 benign not provided 2018-04-25 criteria provided, single submitter clinical testing
GeneDx RCV000038801 SCV000169799 benign not specified 2014-03-27 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 RCV000541252 SCV000645845 likely benign Dilated cardiomyopathy 1W 2017-10-31 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038801 SCV000062479 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Leu542Leu in Exon 12 of VCL: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/3738 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs150402791).

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