ClinVar Miner

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

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Total submissions: 3
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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 2018-03-20 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000788934 SCV000928232 pathogenic not provided 2019-02-18 criteria provided, single submitter clinical testing
OMIM RCV000202315 SCV000257314 pathogenic Roifman syndrome 2015-11-02 no assertion criteria provided literature only

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