Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV003480032 | SCV004224306 | pathogenic | not provided | 2023-01-20 | criteria provided, single submitter | clinical testing | PP3, PM2, PM6, PS4_moderate |
OMIM | RCV000016546 | SCV000036814 | other | HEMOGLOBIN PERTH | 2017-12-12 | no assertion criteria provided | literature only | |
OMIM | RCV000016547 | SCV000036815 | other | HEMOGLOBIN ABRAHAM LINCOLN | 2017-12-12 | no assertion criteria provided | literature only | |
OMIM | RCV000016548 | SCV000036816 | other | HEMOGLOBIN KOBE | 2017-12-12 | no assertion criteria provided | literature only |