ClinVar Miner

Submissions for variant NM_019616.4(F7):c.517T>C (p.Cys173Arg)

gnomAD frequency: 0.00001  dbSNP: rs372577568
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002284230 SCV002573744 likely pathogenic not provided 2021-10-24 criteria provided, single submitter clinical testing PP3, PM1, PM2, PS4_moderate
Institute of Human Genetics, University Hospital Muenster RCV003128439 SCV003804894 likely pathogenic See cases 2021-02-22 criteria provided, single submitter clinical testing ACMG categories: PM1,PM2,PP2,PP3,PP4,PP5,BP1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245395 SCV002515623 uncertain significance Congenital factor VII deficiency no assertion criteria provided research

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