ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.489-56T>G

gnomAD frequency: 0.42604  dbSNP: rs12946808
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554544 SCV001775798 benign Spinocerebellar ataxia type 42 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554545 SCV001775799 benign Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615323 SCV001838864 benign not provided 2021-03-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615323 SCV005250042 benign not provided criteria provided, single submitter not provided

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