Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238444 | SCV000295752 | uncertain significance | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000238444 | SCV000503432 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subject mutated among 2600 FH index cases screened = 1/software prediction damaging |
Iberoamerican FH Network | RCV000238444 | SCV000748103 | uncertain significance | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Institute of Human Genetics, |
RCV000238444 | SCV001428876 | uncertain significance | Familial hypercholesterolemia 1 | 2018-07-23 | criteria provided, single submitter | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000238444 | SCV000606556 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research |