ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5024del (p.Pro1675fs)

dbSNP: rs1554820021
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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 RCV000625915 SCV000746499 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-12-03 criteria provided, single submitter clinical testing

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