ClinVar Miner

Submissions for variant NM_005850.5(SF3B4):c.1147del (p.His383fs) (rs387907186)

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Total submissions: 3
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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 Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
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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