Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
GBinsight Genetic Testing by GB Health |
RCV001175125 | SCV001314293 | uncertain significance | Familial type 3 hyperlipoproteinemia; Familial hypercholesterolemia; Hyperlipoproteinemia | 2020-05-27 | no assertion criteria provided | clinical testing | Proband referred for clinical genetic testing presented with hyperlipidemia and premature cardiovascular disease. Clinical genetic testing identified heterozygosity for the p.Gln141Arg (NM_000041.4:c.422A>G) genetic variant in the the germline. Phenotype segregated with genotype in family members. |