ClinVar Miner

Submissions for variant NM_001205293.3(CACNA1E):c.6359G>A (p.Arg2120Lys)

gnomAD frequency: 0.00033  dbSNP: rs200113695
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001435461 SCV001638284 likely benign not provided 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV001435461 SCV001942412 benign not provided 2021-04-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001435461 SCV004123915 benign not provided 2022-11-01 criteria provided, single submitter clinical testing CACNA1E: BS1, BS2
Genome-Nilou Lab RCV003458704 SCV004179691 likely benign Developmental and epileptic encephalopathy, 69 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001435461 SCV005258223 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003938757 SCV004752178 likely benign CACNA1E-related disorder 2019-06-28 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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