ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.813G>A (p.Gln271=)

gnomAD frequency: 0.00085  dbSNP: rs115927746
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001609648 SCV001837660 benign not provided 2021-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001609648 SCV002408292 benign not provided 2025-01-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458728 SCV004178585 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004752027 SCV005354029 likely benign CACNA1E-related disorder 2024-06-06 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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