ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.2025G>A (p.Val675=)

gnomAD frequency: 0.00256  dbSNP: rs140766884
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038811 SCV000062489 benign not specified 2012-01-19 criteria provided, single submitter clinical testing Val675Val in exon 15 of VCL: This variant is classified as benign based on its h igh frequency in the general population (dbSNP rs140766884; NHLBI Exome Sequenci ng Project, http://evs.gs.washington.edu/EVS).
GeneDx RCV000038811 SCV000169779 benign not specified 2014-01-24 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.
Eurofins Ntd Llc (ga) RCV000038811 SCV000226317 likely benign not specified 2015-02-10 criteria provided, single submitter clinical testing
Invitae RCV000232433 SCV000289911 benign Dilated cardiomyopathy 1W 2024-02-01 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000038811 SCV000312009 likely benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000242584 SCV000319198 likely benign Cardiovascular phenotype 2015-11-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000030579 SCV000900487 benign Cardiomyopathy 2016-09-15 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000232433 SCV001260511 uncertain significance Dilated cardiomyopathy 1W 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen RCV001529552 SCV002585228 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing VCL: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001529552 SCV004564715 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030579 SCV000053254 benign Cardiomyopathy 2015-06-09 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529552 SCV001743183 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001529552 SCV001800510 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000038811 SCV001924644 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000038811 SCV001931108 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038811 SCV001955104 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529552 SCV001966849 likely benign not provided no assertion criteria provided clinical testing

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