Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238589 | SCV000295381 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Cardiovascular Research Group, |
RCV000238589 | SCV000322944 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | 0/208 non-FH alleles; 0/100 normolipidemic individuals |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000238589 | SCV000503338 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1 / previously described in association with FH / Software predictions: Damaging |
Laboratory of Genetics and Molecular Cardiology, |
RCV000238589 | SCV000588574 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Iberoamerican FH Network | RCV000238589 | SCV000748146 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Institute of Human Genetics, |
RCV000238589 | SCV001428730 | likely pathogenic | Familial hypercholesterolemia 1 | 2020-02-26 | criteria provided, single submitter | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000238589 | SCV000606403 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research |