ClinVar Miner

Submissions for variant NM_005861.4(STUB1):c.784C>T (p.Gln262Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV004698460 SCV005187353 likely pathogenic Spinocerebellar ataxia 48 2024-08-14 criteria provided, single submitter clinical testing PVS1, PM2

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