ClinVar Miner

Submissions for variant NM_001020658.2(PUM1):c.2420C>T (p.Pro807Leu)

dbSNP: rs779524509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843887 SCV002103090 uncertain significance Spinocerebellar ataxia 47 2022-03-02 criteria provided, single submitter clinical testing PP2, BS2

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