Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002068438 | SCV002381603 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003883571 | SCV004702897 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | APOB: PM2:Supporting, BP4, BP7 |