ClinVar Miner

Submissions for variant NM_005850.5(SF3B4):c.1147del (p.His383fs)

dbSNP: rs387907186
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623822 SCV000742409 pathogenic Inborn genetic diseases 2017-05-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268045 SCV001446649 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000024346 SCV000045637 pathogenic Nager syndrome 2013-08-01 no assertion criteria provided literature only
Clinical Genetics Research Group, University of Calgary RCV000024346 SCV000245732 pathogenic Nager syndrome 2012-09-07 no assertion criteria provided research

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