ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.5267+5G>A

dbSNP: rs2102796431
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002262256 SCV002544339 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing CACNA1E: PM2, PP3
GeneDx RCV002262256 SCV002584280 pathogenic not provided 2024-03-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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