ClinVar Miner

Submissions for variant NM_019616.4(F7):c.154dup (p.Glu52fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV003313883 SCV004013087 likely pathogenic Congenital factor VII deficiency criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003481486 SCV004224383 pathogenic not provided 2022-03-03 criteria provided, single submitter clinical testing PM1, PM2, PVS1

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