Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000003895 | SCV000296012 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000003895 | SCV000503491 | pathogenic | Hypercholesterolemia, familial, 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 15 , family members = 2 |
U4M - |
RCV000003895 | SCV000583954 | pathogenic | Hypercholesterolemia, familial, 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV001256974 | SCV001433519 | pathogenic | not provided | 2020-02-18 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000003895 | SCV000024060 | pathogenic | Hypercholesterolemia, familial, 1 | 1990-01-01 | no assertion criteria provided | literature only |