ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1479C>T (p.His493=)

gnomAD frequency: 0.02109  dbSNP: rs9897406
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001694455 SCV001908010 benign not provided 2021-03-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502022 SCV002810095 likely benign Spinocerebellar ataxia type 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2022-05-17 criteria provided, single submitter clinical testing
Invitae RCV001694455 SCV003249252 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004536251 SCV004739601 benign CACNA1G-related disorder 2020-01-21 criteria provided, single submitter 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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