Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237953 | SCV000294964 | likely benign | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000237953 | SCV000503232 | likely benign | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 2 / in association with c.1765G>A, p.Asp589Asn / Software predictions: Benign |
Invitae | RCV000775048 | SCV000544695 | likely benign | Familial hypercholesterolemia | 2019-12-31 | criteria provided, single submitter | clinical testing | |
U4M - |
RCV000237953 | SCV000583738 | pathogenic | Familial hypercholesterolemia 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Laboratory of Genetics and Molecular Cardiology, |
RCV000237953 | SCV000588517 | uncertain significance | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Fundacion Hipercolesterolemia Familiar | RCV000237953 | SCV000607499 | uncertain significance | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Robarts Research Institute, |
RCV000237953 | SCV000782953 | uncertain significance | Familial hypercholesterolemia 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Color | RCV000775048 | SCV000909147 | uncertain significance | Familial hypercholesterolemia | 2019-12-29 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000845535 | SCV000987649 | uncertain significance | not provided | criteria provided, single submitter | clinical testing | ||
Brunham Lab, |
RCV000237953 | SCV001432577 | uncertain significance | Familial hypercholesterolemia 1 | 2019-03-03 | criteria provided, single submitter | research | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000237953 | SCV000606221 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research |