ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.45A>G (p.Pro15=)

gnomAD frequency: 0.00001  dbSNP: rs1289095937
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001414018 SCV001616143 likely benign Primary pulmonary hypertension 2019-08-06 criteria provided, single submitter clinical testing

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