ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1141-71C>T

gnomAD frequency: 0.47704  dbSNP: rs16949166
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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 RCV001554546 SCV001775800 benign Spinocerebellar ataxia type 42 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554547 SCV001775801 benign Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001658290 SCV001872897 benign not provided 2021-03-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658290 SCV005250048 benign not provided criteria provided, single submitter not provided

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