Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001092277 | SCV001248698 | pathogenic | not provided | 2018-04-01 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV000010826 | SCV001370095 | pathogenic | Hereditary factor VIII deficiency disease | 2016-01-01 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM2,PP3,PP5. |
OMIM | RCV000010826 | SCV000031053 | pathogenic | Hereditary factor VIII deficiency disease | 1992-05-01 | no assertion criteria provided | literature only | |
OMIM | RCV000010827 | SCV000031054 | pathogenic | FACTOR VIII (EAST HARTFORD) | 1992-05-01 | no assertion criteria provided | literature only | |
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, |
RCV000010826 | SCV001424879 | pathogenic | Hereditary factor VIII deficiency disease | 2019-06-01 | no assertion criteria provided | clinical testing |