ClinVar Miner

Submissions for variant NM_001020658.2(PUM1):c.364G>A (p.Val122Met)

dbSNP: rs1643312973
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001706722 SCV001934550 benign Global developmental delay; Seizure; Intellectual disability 2020-09-25 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253128 SCV001428672 uncertain significance Spinocerebellar ataxia 47 2020-02-17 criteria provided, single submitter clinical testing

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