ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.604A>T (p.Asn202Tyr)

dbSNP: rs397514496
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV003984810 SCV000056380 pathogenic Pulmonary venoocclusive disease 1 2008-07-01 no assertion criteria provided literature only
UF D’onco_angiogenetique Et Genomique Des Tumeurs Solides, APHP Sorbonne Universite Hopital Pitie Salpetriere RCV003227622 SCV003924093 uncertain significance Familial pulmonary capillary hemangiomatosis 2023-05-12 no assertion criteria provided clinical testing This variant was identified in a patient with PVOD (same patient as the one described in PMID: 18626305) for whom a biallelic pathogenic variant was identified in the EIF2AK4 gene (PMID: 24292273.

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