ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.792T>C (p.Ser264=)

gnomAD frequency: 0.00110  dbSNP: rs139448267
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186825 SCV000240396 benign not specified 2014-07-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000227520 SCV000285611 benign Idiopathic generalized epilepsy 2023-12-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000186825 SCV000343533 benign not specified 2016-08-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539735 SCV004760747 benign CACNB4-related disorder 2019-11-26 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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