ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.1638+10C>A

dbSNP: rs371576889
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001653126 SCV001871309 benign not provided 2021-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001653126 SCV002448011 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446857 SCV004172388 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956309 SCV004768561 likely benign CACNA1E-related disorder 2020-02-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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