Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237225 | SCV000294782 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000237225 | SCV000503177 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 3 , family members = 3 with co-segregation |
U4M - |
RCV000237225 | SCV000583699 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Iberoamerican FH Network | RCV000237225 | SCV000748165 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | research | |
Mayo Clinic Laboratories, |
RCV003480569 | SCV004227675 | pathogenic | not provided | 2022-07-06 | criteria provided, single submitter | clinical testing | PM2_supporting, PS4_moderate, PVS1 |