Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000238040 | SCV000295334 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | literature only | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000238040 | SCV000503326 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 15 , family members = 6 with co-segregation / variant systematically associated with c.798T>A, p.Asp266Glu / Software predictions: Conflicting |
Cardiovascular Research Group, |
RCV000238040 | SCV000599370 | pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | curation | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000238040 | SCV000606378 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research |