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
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000038797 SCV000062475 benign not specified 2010-03-16 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.
Invitae RCV000588077 SCV000289907 benign not provided 2019-03-04 criteria provided, single submitter clinical testing
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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000588077 SCV000884869 benign not provided 2017-08-07 criteria provided, single submitter clinical testing

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