Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001837921 | SCV000554805 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-11-10 | criteria provided, single submitter | clinical testing | |
Robarts Research Institute, |
RCV000584289 | SCV000782814 | likely benign | Hypercholesterolemia, familial, 1 | 2018-01-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000997040 | SCV001152100 | likely benign | not provided | 2019-06-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002383856 | SCV002695098 | likely benign | Cardiovascular phenotype | 2020-09-15 | 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. |