ClinVar Miner

Submissions for variant NM_000718.4(CACNA1B):c.4176G>A (p.Leu1392=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003840034 SCV004641049 likely benign not provided 2023-07-14 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003981156 SCV004792885 likely benign CACNA1B-related disorder 2019-04-09 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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