ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.3084C>T (p.His1028=)

gnomAD frequency: 0.00194  dbSNP: rs61741117
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972920 SCV001120650 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
GeneDx RCV000972920 SCV001889636 benign not provided 2021-04-20 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000972920 SCV004699776 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CACNA1G: BP4, BP7
Breakthrough Genomics, Breakthrough Genomics RCV000972920 SCV005252245 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004543633 SCV004766719 likely benign CACNA1G-related disorder 2019-03-08 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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