ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.530-2A>G

dbSNP: rs2106003122
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Cologne University RCV001795820 SCV002037098 pathogenic Pulmonary venoocclusive disease 1 no assertion criteria provided clinical testing

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