ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.3704G>A (p.Arg1235Gln)

gnomAD frequency: 0.00160  dbSNP: rs150972562
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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 RCV000969923 SCV001117471 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000969923 SCV001945227 benign not provided 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969923 SCV002822413 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing CACNA1G: BS1
Breakthrough Genomics, Breakthrough Genomics RCV000969923 SCV005218161 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004535953 SCV004728187 likely benign CACNA1G-related disorder 2019-04-30 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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