Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001507548 | SCV001713156 | pathogenic | not provided | 2020-02-20 | criteria provided, single submitter | clinical testing | PS3_moderate, PS4_moderate, PM2, PM6, PP3 |
OMIM | RCV000011910 | SCV000032143 | pathogenic | Hyper-IgM syndrome type 1 | 1993-02-12 | no assertion criteria provided | literature only |