ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.4545C>T (p.Ile1515=)

gnomAD frequency: 0.00068  dbSNP: rs182225778
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000881958 SCV001025166 likely benign not provided 2025-01-11 criteria provided, single submitter clinical testing
GeneDx RCV000881958 SCV001985104 benign not provided 2021-08-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000881958 SCV004123906 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CACNA1E: BP4, BP7
Genome-Nilou Lab RCV003458568 SCV004179658 benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975541 SCV004789394 likely benign CACNA1E-related disorder 2019-02-28 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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