ClinVar Miner

Submissions for variant NM_001204.7(BMPR2):c.667G>C (p.Asp223His)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003823756 SCV004624365 likely benign Primary pulmonary hypertension 2023-07-13 criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV004759323 SCV005374014 uncertain significance Pulmonary hypertension, primary, 1 2024-09-22 criteria provided, single submitter clinical testing

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