ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.1749C>A (p.Asn583Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005030811 SCV005654574 uncertain significance Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 2024-02-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005112746 SCV005755263 likely benign Primary pulmonary hypertension 2024-09-12 criteria provided, single submitter clinical testing

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