ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1857G>A (p.Ala619=)

gnomAD frequency: 0.00002  dbSNP: rs1402201354
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001171114 SCV001333794 likely benign Cardiomyopathy 2018-02-28 criteria provided, single submitter clinical testing
Invitae RCV001421073 SCV001623588 likely benign Dilated cardiomyopathy 1W 2023-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353188 SCV004056852 likely benign Cardiovascular phenotype 2023-08-29 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.

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