ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.482C>G (p.Thr161Arg)

dbSNP: rs376226543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763618 SCV002000967 uncertain significance not provided 2020-01-17 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Fulgent Genetics, Fulgent Genetics RCV002489793 SCV002788560 uncertain significance Dilated cardiomyopathy 1W; Hypertrophic cardiomyopathy 15 2022-02-02 criteria provided, single submitter clinical testing

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