ClinVar Miner

Submissions for variant NM_005850.5(SF3B4):c.1A>G (p.Met1Val) (rs387907185)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Research Group, University of Calgary RCV000024344 SCV000245744 pathogenic Nager syndrome 2012-09-07 no assertion criteria provided research
OMIM RCV000024344 SCV000045635 pathogenic Nager syndrome 2012-05-04 no assertion criteria provided literature only

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