Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001838191 | SCV001003035 | likely benign | Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001560754 | SCV001783225 | likely benign | not provided | 2020-12-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002442594 | SCV002735357 | likely benign | Cardiovascular phenotype | 2022-02-21 | 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 | RCV001560754 | SCV004221815 | likely benign | not provided | 2023-06-07 | criteria provided, single submitter | clinical testing |