ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1061T>A (p.Leu354His)

dbSNP: rs2145140311
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767614 SCV001998504 uncertain significance not provided 2019-11-18 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

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