ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.1141-29A>G

gnomAD frequency: 0.58075  dbSNP: rs198550
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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 RCV001554548 SCV001775802 benign Spinocerebellar ataxia type 42 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001554549 SCV001775803 benign Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001713050 SCV001938950 benign not provided 2021-03-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001713050 SCV005250049 benign not provided criteria provided, single submitter not provided

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