ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter) (rs879253866)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000235070 SCV000292364 pathogenic Spinocerebellar ataxia autosomal recessive 1 2015-08-18 criteria provided, single submitter research This variant is predicted deleterious according to ACMG guidelines, and was identified in a homozygous state in an individual with ataxia, peripheral neuropathy and oculomotor apraxia.

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