ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val) (rs886039222)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine,Kyoto University Graduate School of Medicine RCV000246386 SCV000320706 pathogenic Primary pulmonary hypertension 2016-07-11 no assertion criteria provided clinical testing
Medical & Molecular Genetics Group,University of Lincoln RCV000246386 SCV000576248 pathogenic Primary pulmonary hypertension no assertion criteria provided literature only

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