ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1296_1297inv (p.Arg433Cys)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000537206 SCV000645836 likely benign Dilated cardiomyopathy 1W 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001562499 SCV001785275 uncertain significance not provided 2022-06-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this variant does not alter protein structure/function
Ambry Genetics RCV002384172 SCV002695503 likely benign Cardiovascular phenotype 2022-05-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Fulgent Genetics, Fulgent Genetics RCV002483454 SCV002784052 uncertain significance Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 2021-08-13 criteria provided, single submitter clinical testing

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