ClinVar Miner

Submissions for variant NM_021830.5(TWNK):c.49del (p.Leu17fs)

dbSNP: rs779142717
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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 RCV000855767 SCV000998982 pathogenic Infantile onset spinocerebellar ataxia 2019-07-17 criteria provided, single submitter clinical testing

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