ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.4692G>A (p.Leu1564=)

dbSNP: rs2102723150
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002176338 SCV002478603 likely benign not provided 2020-12-12 criteria provided, single submitter clinical testing
GeneDx RCV002176338 SCV002818918 uncertain significance not provided 2022-07-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.

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