ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.1381C>G (p.Pro461Ala)

dbSNP: rs776242172
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754173 SCV001987169 uncertain significance not provided 2019-07-07 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
Fulgent Genetics, Fulgent Genetics RCV002503186 SCV002782579 uncertain significance Timothy syndrome; Brugada syndrome 3; Long qt syndrome 8 2021-08-27 criteria provided, single submitter clinical testing

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