ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1589G>A (p.Arg530His)

gnomAD frequency: 0.00445  dbSNP: rs7222276
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000972919 SCV001120649 benign not provided 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV000972919 SCV001982992 likely benign not provided 2021-04-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503090 SCV002801219 likely benign Spinocerebellar ataxia type 42; Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2022-05-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000972919 SCV004699766 benign not provided 2023-12-01 criteria provided, single submitter clinical testing CACNA1G: BS1, BS2

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