ClinVar Miner

Submissions for variant NM_000488.4(SERPINC1):c.1256C>T (p.Ala419Val)

gnomAD frequency: 0.00001  dbSNP: rs121909568
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER _CC_NCGL, University of Washington RCV000019654 SCV000190627 uncertain significance Hereditary antithrombin deficiency 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Fulgent Genetics, Fulgent Genetics RCV000019654 SCV002800940 uncertain significance Hereditary antithrombin deficiency 2021-11-04 criteria provided, single submitter clinical testing
GeneDx RCV005051736 SCV005685592 uncertain significance not provided 2024-07-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25637381, 24055113, 1483709)
OMIM RCV000019654 SCV000039952 pathogenic Hereditary antithrombin deficiency 1992-12-01 no assertion criteria provided literature only

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