Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
NIHR Bioresource Rare Diseases, |
RCV000851993 | SCV000899434 | likely pathogenic | Hypofibrinogenemia | 2019-02-01 | criteria provided, single submitter | research | |
Mayo Clinic Laboratories, |
RCV002284177 | SCV002573727 | likely pathogenic | not provided | 2021-07-08 | criteria provided, single submitter | clinical testing | PS4_Moderate, PM1, PM2 |
OMIM | RCV000017843 | SCV000038122 | other | FIBRINOGEN AARHUS 1 | 2012-12-20 | no assertion criteria provided | literature only |