ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.2560C>T (p.Leu854=)

dbSNP: rs551463686
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001413101 SCV001615207 likely benign Dilated cardiomyopathy 1W 2024-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV003362875 SCV004056851 benign Cardiovascular phenotype 2023-08-24 criteria provided, single submitter clinical testing This alteration is classified as 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.
PreventionGenetics, part of Exact Sciences RCV003928097 SCV004751275 likely benign VCL-related disorder 2019-06-07 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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