ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6038T>G (p.Val2013Gly)

dbSNP: rs797045068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000191127 SCV000245535 likely pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2013-06-05 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory with a pathogenic variant [A1941fs] in a 51-year-old male with spinocerebellar ataxia, marked cerebellar atrophy, severe sensorineural axonal neuropathy
Genetic Services Laboratory, University of Chicago RCV000191127 SCV000248851 likely pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2014-04-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000191127 SCV003931281 likely pathogenic Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-02-08 criteria provided, single submitter clinical testing

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