ClinVar Miner

Submissions for variant NR_023343.1(RNU4ATAC):n.13C>T (rs559979281)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network,NIH RCV000202315 SCV000837725 pathogenic Roifman syndrome 2019-10-02 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788934 SCV000928232 pathogenic not provided 2019-02-18 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000788934 SCV001446768 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000202315 SCV000257314 pathogenic Roifman syndrome 2015-11-02 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV000202315 SCV001161807 likely pathogenic Roifman syndrome no assertion criteria provided research

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