ClinVar Miner

Submissions for variant NM_000488.3(SERPINC1):c.89T>A (p.Val30Glu) (rs2227624)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000019628 SCV000253285 likely benign Reduced antithrombin III activity 2018-01-02 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852239 SCV000899977 uncertain significance Thromboembolism 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000019628 SCV000899978 uncertain significance Reduced antithrombin III activity 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852240 SCV000899979 uncertain significance Deep venous thrombosis 2019-02-01 criteria provided, single submitter research
OMIM RCV000019628 SCV000039926 pathogenic Reduced antithrombin III activity 1992-12-01 no assertion criteria provided literature only

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