ClinVar Miner

Submissions for variant NM_019616.4(F7):c.1325del (p.Pro442fs) (rs750457207)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851926 SCV000899306 likely pathogenic Factor VII deficiency 2019-02-01 criteria provided, single submitter research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851695 SCV000899495 likely pathogenic Abnormal bleeding 2019-02-01 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091745 SCV001247950 pathogenic not provided 2019-10-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000851926 SCV001368368 likely pathogenic Factor VII deficiency 2019-09-11 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2.

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