ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val) (rs1554969894)

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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 RCV000661920 SCV000784242 likely pathogenic Spinocerebellar ataxia, autosomal recessive 21 2018-03-05 criteria provided, single submitter clinical testing

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