ClinVar Miner

Submissions for variant NM_005861.4(STUB1):c.778dup (p.His260fs)

gnomAD frequency: 0.00002  dbSNP: rs780883873
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV002237203 SCV002507314 likely pathogenic Spinocerebellar ataxia 48 2021-12-01 criteria provided, single submitter clinical testing

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