Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237671 | SCV000294726 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000237671 | SCV000503163 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 6 , family members = 6 with co-segregation / FH-Germany / Software predictions: Damaging |
U4M - |
RCV000237671 | SCV000583683 | pathogenic | Familial hypercholesterolemia 1 | 2017-03-30 | criteria provided, single submitter | clinical testing | |
Robarts Research Institute, |
RCV000237671 | SCV000782948 | likely pathogenic | Familial hypercholesterolemia 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000712214 | SCV000842652 | likely pathogenic | not provided | 2017-11-22 | criteria provided, single submitter | clinical testing | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000237671 | SCV000606127 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research |