ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6620A>T (p.Asp2207Val)

gnomAD frequency: 0.00001  dbSNP: rs1564482221
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995871 SCV001150255 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-05-07 criteria provided, single submitter clinical testing

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