ClinVar Miner

Submissions for variant NM_000552.5(VWF):c.7770+1G>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001197641 SCV001368420 pathogenic von Willebrand disease type 2 2020-01-21 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PS3,PM2,PP3,PP5.
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico RCV001375711 SCV001572753 likely pathogenic Von Willebrand disease, recessive form 2020-11-01 no assertion criteria provided clinical testing ClinGen Pathogenicity Calculator

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