ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.768T>C (p.Asp256=)

gnomAD frequency: 0.06776  dbSNP: rs56413529
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030581 SCV000053256 benign Cardiomyopathy 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000038839 SCV000062517 benign not specified 2010-12-17 criteria provided, single submitter clinical testing
GeneDx RCV000038839 SCV000169790 benign not specified 2013-07-05 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.
Preventiongenetics, part of Exact Sciences RCV000038839 SCV000312015 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000247091 SCV000317931 benign Cardiovascular phenotype 2015-06-25 criteria provided, single submitter clinical testing This alteration is classified as 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.
Illumina Laboratory Services, Illumina RCV000468675 SCV000364917 benign Dilated cardiomyopathy 1W 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000468675 SCV000559718 benign Dilated cardiomyopathy 1W 2024-02-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482924 SCV002798719 likely benign Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 2022-05-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114208 SCV003799953 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000038839 SCV001920590 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000038839 SCV001954952 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000038839 SCV001973335 benign not specified no assertion criteria provided clinical testing

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