Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV004791151 | SCV005413663 | likely pathogenic | not provided | 2024-06-12 | criteria provided, single submitter | clinical testing | PM2, PVS1_strong |
Fulgent Genetics, |
RCV005038838 | SCV005660598 | likely pathogenic | Familial visceral amyloidosis, Ostertag type; Congenital afibrinogenemia; Familial dysfibrinogenemia | 2024-05-14 | criteria provided, single submitter | clinical testing |