ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.136A>G (p.Ile46Val)

gnomAD frequency: 0.00001  dbSNP: rs759804753
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175688 SCV000227223 uncertain significance not provided 2015-05-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492748 SCV002789208 uncertain significance Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 2021-11-15 criteria provided, single submitter clinical testing

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