ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.1215C>A (p.Ser405=)

dbSNP: rs35265801
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001532085 SCV001747482 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing CACNA1E: BP4, BP7
GeneDx RCV001532085 SCV001894669 benign not provided 2021-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001532085 SCV002474894 benign not provided 2025-01-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458721 SCV004179583 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004752005 SCV005359149 likely benign CACNA1E-related disorder 2024-08-07 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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