Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000003896 | SCV000294882 | likely pathogenic | Familial hypercholesterolemia | 2016-03-25 | criteria provided, single submitter | literature only | |
Cardiovascular Research Group, |
RCV000003896 | SCV000322910 | pathogenic | Familial hypercholesterolemia | 2016-03-01 | criteria provided, single submitter | research | 0/190 non-FH alleles; 0/100 healthy control individuals |
Robarts Research Institute, |
RCV000003896 | SCV000484692 | likely pathogenic | Familial hypercholesterolemia | criteria provided, single submitter | clinical testing | ||
Centre de Génétique Moléculaire et Chromosomique, |
RCV000003896 | SCV000503207 | likely pathogenic | Familial hypercholesterolemia | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 / FH-Portugal |
U4M - |
RCV000003896 | SCV000583719 | pathogenic | Familial hypercholesterolemia | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Fundacion Hipercolesterolemia Familiar | RCV000003896 | SCV000607486 | pathogenic | Familial hypercholesterolemia | 2016-03-01 | criteria provided, single submitter | research | |
OMIM | RCV000003896 | SCV000024061 | pathogenic | Familial hypercholesterolemia | 1986-10-05 | no assertion criteria provided | literature only | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000003896 | SCV000606193 | pathogenic | Familial hypercholesterolemia | no assertion criteria provided | research |