ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.276A>C (p.Gln92His)

gnomAD frequency: 0.00001  dbSNP: rs140683387
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center RCV000488455 SCV000267228 uncertain significance Pulmonary hypertension, primary, 1 2016-03-18 criteria provided, single submitter reference population
GeneDx RCV001753635 SCV001985398 uncertain significance not provided 2020-06-19 criteria provided, single submitter clinical testing Present in two Japanese patients reported to have pulmonary arterial hypertension and in a patient with anomalous unilateral single pulmonary vein (Kabata et al., 2013; Koyama et al., 2014; Kobayashi et al., 2018); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29718794, 24583436, 23675998, 27002414)
Fulgent Genetics, Fulgent Genetics RCV002494550 SCV002780849 uncertain significance Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 2021-11-15 criteria provided, single submitter clinical testing
Invitae RCV002517440 SCV003517063 benign Primary pulmonary hypertension 2024-01-25 criteria provided, single submitter clinical testing
Rare Disease Genomics Group, St George's University of London RCV000488455 SCV000576023 uncertain significance Pulmonary hypertension, primary, 1 no assertion criteria provided literature only

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