Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002068447 | SCV002376435 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-05-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002292614 | SCV002585771 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | APOB: BP4, BP7 |
Ambry Genetics | RCV002393425 | SCV002696932 | likely benign | Cardiovascular phenotype | 2020-11-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |