ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.5820A>C (p.Pro1940=)

dbSNP: rs35611740
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001732448 SCV001982524 likely benign not provided 2021-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001732448 SCV002410656 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003458754 SCV004179676 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001732448 SCV005258219 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003931307 SCV004740851 benign CACNA1E-related disorder 2019-08-08 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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