ClinVar Miner

Submissions for variant NM_001020658.2(PUM1):c.364-44A>G

gnomAD frequency: 0.31144  dbSNP: rs4949331
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001690668 SCV001909791 benign not provided 2021-05-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001796711 SCV002033336 benign Spinocerebellar ataxia 47 2021-11-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001690668 SCV005284977 benign not provided criteria provided, single submitter not provided

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