ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.2353G>A (p.Glu785Lys)

gnomAD frequency: 0.00003  dbSNP: rs773135384
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wendy Chung Laboratory, Columbia University Medical Center RCV000664170 SCV000784729 uncertain significance Pulmonary arterial hypertension associated with congenital heart disease 2018-06-27 criteria provided, single submitter case-control
Fulgent Genetics, Fulgent Genetics RCV002507147 SCV002815644 uncertain significance Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 2022-02-02 criteria provided, single submitter clinical testing
Invitae RCV003596487 SCV004285162 likely benign Primary pulmonary hypertension 2023-11-20 criteria provided, single submitter clinical testing

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