Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000330977 | SCV000427146 | uncertain significance | Familial hypobetalipoproteinemia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000385435 | SCV000427147 | uncertain significance | Hypercholesterolemia, familial, 1 | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001837875 | SCV001008079 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002429299 | SCV002731298 | likely benign | Cardiovascular phenotype | 2022-08-24 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |