ClinVar Miner

Submissions for variant NM_019616.4(F7):c.845C>T (p.Ala282Val) (rs121964931)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852243 SCV000899982 likely pathogenic Factor VII deficiency 2019-02-01 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV000995102 SCV001149103 likely pathogenic not provided 2019-01-01 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000995102 SCV001713653 pathogenic not provided 2021-01-18 criteria provided, single submitter clinical testing PS3, PS4_moderate, PM1, PM2, PP5

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