ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.2652G>A (p.Glu884=)

gnomAD frequency: 0.00004  dbSNP: rs371187988
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175332 SCV000226803 uncertain significance not provided 2014-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001464791 SCV001668765 likely benign Dilated cardiomyopathy 1W 2023-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453615 SCV002739045 likely benign Cardiovascular phenotype 2020-03-20 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.

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