ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu)

dbSNP: rs781016340
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics RCV000855762 SCV000998977 likely pathogenic Infantile onset spinocerebellar ataxia 2019-07-17 criteria provided, single submitter clinical testing

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