ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.3247T>C (p.Phe1083Leu)

dbSNP: rs2131444517
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Medical Laboratory, Affiliated Hospital of Southwest Medical University RCV001353342 SCV001548224 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 no assertion criteria provided case-control

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