ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5122C>T (p.Arg1708Cys) (rs111033613)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092277 SCV001248698 pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000010826 SCV001370095 pathogenic Hereditary factor VIII deficiency disease 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM2,PP3,PP5.
OMIM RCV000010826 SCV000031053 pathogenic Hereditary factor VIII deficiency disease 1992-05-01 no assertion criteria provided literature only
OMIM RCV000010827 SCV000031054 pathogenic FACTOR VIII (EAST HARTFORD) 1992-05-01 no assertion criteria provided literature only
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV000010826 SCV001424879 pathogenic Hereditary factor VIII deficiency disease 2019-06-01 no assertion criteria provided clinical testing

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