Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237170 | SCV000295076 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000237170 | SCV000503260 | likely pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 2 |
Mayo Clinic Laboratories, |
RCV004791369 | SCV005413309 | likely pathogenic | not provided | 2024-09-26 | criteria provided, single submitter | clinical testing | PM2, PS4_supporting, PVS1_strong |