Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV000852015 | SCV000899473 | likely pathogenic | Hypofibrinogenemia | 2019-02-01 | criteria provided, single submitter | research | |
Mayo Clinic Laboratories, |
RCV002284174 | SCV002573726 | likely pathogenic | not provided | 2021-12-06 | criteria provided, single submitter | clinical testing | PM1, PM2, PS4_Moderate |
Institute of Human Genetics, |
RCV002287338 | SCV002578100 | likely pathogenic | Stroke disorder | 2021-12-08 | criteria provided, single submitter | clinical testing | ACMG categories: PM2,PP3,PP4,PP5 |
OMIM | RCV000017804 | SCV000038083 | other | FIBRINOGEN CHRISTCHURCH 2 | 2018-03-29 | no assertion criteria provided | literature only |