ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.333del (p.Leu112fs)

dbSNP: rs886037832
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
King Laboratory, University of Washington RCV000240394 SCV000267647 pathogenic Infantile onset spinocerebellar ataxia 2016-03-20 no assertion criteria provided research

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