ClinVar Miner

Submissions for variant NM_000726.5(CACNB4):c.64-238T>G

gnomAD frequency: 0.00042  dbSNP: rs369342902
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001644599 SCV000612626 likely benign not specified 2021-05-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000517151 SCV001500235 uncertain significance not provided 2021-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541604 SCV004786952 likely benign CACNB4-related disorder 2020-07-06 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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