Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000019456 | SCV000039746 | pathogenic | APOE4(-)-FREIBURG | 2017-02-15 | no assertion criteria provided | literature only | |
GBinsight Genetic Testing by GB Health |
RCV001175124 | SCV001321553 | likely pathogenic | Familial hypercholesterolemia | 2020-05-27 | no assertion criteria provided | clinical testing | Multiple, unrelated, probands were referred, from independent clinics, for clinical genetic testing for familial hypercholesterolemia. Clinical genetic testing identified heterozygosity for the APOE4(-)-FREIBURG haplotype consisting of p.Cys130Arg (E4) AND p.Leu46Pro genetic variants in the germline. Amongst these, all had the haplotype. Phenotype segregated with genotype in the families tested. |