ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.1542C>T (p.Val514=) (rs7904077)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588077 SCV000884869 benign not provided 2017-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000038797 SCV000236468 benign not specified 2014-08-27 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.
Illumina Clinical Services Laboratory,Illumina RCV000338609 SCV000364927 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588077 SCV000699354 benign not provided 2016-02-09 criteria provided, single submitter clinical testing Variant summary: This c.1542C>T variant affects a non-conserved nucleotide, resulting in synonymous amino acid change. 5/5 programs in Alamut predict that this variant does not affect normal splicing. This variant was found in 126/104130 control chromosomes from ExAC at a frequency of 0.00121, which is more than 47 times greater than the maximal expected frequency of a pathogenic allele (0.000025) in this gene, suggesting this variant is benign. This variant is more frequent in African population with allele frequency of 1.3% (120/9012 chromosomes). Multiple clinical labs have classified this variant as benign. Taken together, this variant has been classified as Benign.
Invitae RCV000227766 SCV000289907 benign Dilated cardiomyopathy 1W 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038797 SCV000062475 benign not specified 2010-03-16 criteria provided, single submitter clinical testing

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