ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7309C>G (p.Leu2437Val) (rs1564464665)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680096 SCV000807537 uncertain significance Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory in trans with a pathogenic variant in an 8-year-old male with speech delay, regression, hypotonia, ataxia, progressive muscle weakness, fatigue

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