ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.968-3C>G

dbSNP: rs1085307280
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001764466 SCV001988952 uncertain significance not provided 2019-09-16 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 26387786)
Rare Disease Genomics Group, St George's University of London RCV000488580 SCV000576141 pathogenic Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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