ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.726C>T (p.Asn242=)

gnomAD frequency: 0.00014  dbSNP: rs151044452
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003103867 SCV001015349 likely benign Primary pulmonary hypertension 2023-06-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495304 SCV002804161 likely benign Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 2022-04-21 criteria provided, single submitter clinical testing

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