ClinVar Miner

Submissions for variant NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu)

dbSNP: rs1567964995
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714702 SCV000845424 uncertain significance Spinocerebellar ataxia type 42 2018-08-07 criteria provided, single submitter clinical testing

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