Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ISTH- |
RCV000004370 | SCV002500877 | pathogenic | Pseudo von Willebrand disease | criteria provided, single submitter | clinical testing | ||
Genetics and Molecular Pathology, |
RCV000004370 | SCV002556895 | likely pathogenic | Pseudo von Willebrand disease | 2021-04-20 | criteria provided, single submitter | clinical testing | The GP1BA c.746G>T variant is classified as Likely Pathogenic (PS3, PM2, PP1, PP3, PP4, PP5) |
OMIM | RCV000004370 | SCV000024541 | pathogenic | Pseudo von Willebrand disease | 1993-05-01 | no assertion criteria provided | literature only |