ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.5226+7G>A

gnomAD frequency: 0.00688  dbSNP: rs116224642
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000892739 SCV001036636 benign not provided 2025-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000892739 SCV001981805 likely benign not provided 2021-03-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000892739 SCV005211083 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004530979 SCV004723428 benign CACNA1G-related disorder 2020-01-03 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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