ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.853A>C (p.Thr285Pro)

dbSNP: rs2145245518
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001757202 SCV001996780 uncertain significance not provided 2019-11-13 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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