ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) (rs797045067)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191126 SCV000245534 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2013-06-05 criteria provided, single submitter clinical testing This frameshift variant is categorized as deleterious according to ACMG guidelines (PMID:18414213) and was found once in our laboratory with another variant [V2013G] in a 51-year-old male with spinocerebellar ataxia, marked cerebellar atrophy, severe sensorineural axonal neuropathy
Genetic Services Laboratory, University of Chicago RCV000191126 SCV000248850 pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2014-04-04 criteria provided, single submitter clinical testing

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