ClinVar Miner

Submissions for variant NM_006946.3(SPTBN2):c.470T>C (p.Ile157Thr) (rs875989881)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000211499 SCV000268519 likely pathogenic Spinocerebellar ataxia type 5 2016-04-12 criteria provided, single submitter clinical testing A de novo and likely pathogenic dominant SPTBN2 variant was identified in a young patient with congenital ataxia.

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