ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1519_1520insAT (p.Ile507fs)

dbSNP: rs2106042216
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001801334 SCV002047543 pathogenic Pulmonary hypertension, primary, 1 2021-09-14 criteria provided, single submitter clinical testing

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