ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.36G>A (p.Ala12=)

gnomAD frequency: 0.00004  dbSNP: rs754380009
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173167 SCV000224260 uncertain significance not provided 2015-01-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001412999 SCV001615101 likely benign Idiopathic generalized epilepsy 2018-04-18 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700529 SCV005205510 likely benign not specified 2024-06-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539595 SCV004790138 likely benign CACNB4-related disorder 2019-03-05 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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