ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1716G>A (p.Met572Ile)

gnomAD frequency: 0.00038  dbSNP: rs771002296
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002124748 SCV002409651 benign Primary pulmonary hypertension 2023-09-18 criteria provided, single submitter clinical testing

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