Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000003945 | SCV000294826 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000003945 | SCV000503190 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 5, family member = 1 |
U4M - |
RCV000003945 | SCV000583711 | pathogenic | Familial hypercholesterolemia 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Cardiovascular Research Group, |
RCV000003945 | SCV000599336 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | curation | |
Iberoamerican FH Network | RCV000003945 | SCV000748131 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
OMIM | RCV000003945 | SCV000024110 | pathogenic | Familial hypercholesterolemia 1 | 2008-06-01 | no assertion criteria provided | literature only | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000003945 | SCV000606170 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research |