Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
LDLR- |
RCV000237280 | SCV000294788 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-25 | criteria provided, single submitter | research | |
Centre de Génétique Moléculaire et Chromosomique, |
RCV000237280 | SCV000503180 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-12-16 | criteria provided, single submitter | clinical testing | subjects mutated among 2600 FH index cases screened = 3 , family members = 3 with co-segregation / Software predictions: Damaging |
Fundacion Hipercolesterolemia Familiar | RCV000237280 | SCV000607473 | likely pathogenic | Familial hypercholesterolemia 1 | 2016-03-01 | criteria provided, single submitter | research | |
Brunham Lab, |
RCV000237280 | SCV001432611 | pathogenic | Familial hypercholesterolemia 1 | 2019-05-23 | criteria provided, single submitter | research | |
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, |
RCV000237280 | SCV000606157 | pathogenic | Familial hypercholesterolemia 1 | no assertion criteria provided | research |