Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838402 | SCV001704954 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001531310 | SCV001746344 | likely benign | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411706 | SCV002673317 | likely benign | Cardiovascular phenotype | 2022-03-03 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001531310 | SCV004221643 | likely benign | not provided | 2022-12-29 | criteria provided, single submitter | clinical testing |