ClinVar Miner

Submissions for variant NM_001020658.2(PUM1):c.3028C>T (p.Arg1010Ter)

dbSNP: rs1639458746
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333770 SCV001526447 pathogenic Spinocerebellar ataxia 47 2018-09-25 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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