Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mayo Clinic Laboratories, |
RCV000960083 | SCV007310672 | likely benign | not provided | 2025-05-07 | criteria provided, single submitter | clinical testing | BP4, BP7 |
| Fulgent Genetics, |
RCV002503000 | SCV002809400 | likely benign | Alzheimer disease 3; Alzheimer disease 2; Alzheimer disease 4; Age related macular degeneration 1; Sea-blue histiocyte syndrome; Lipoprotein glomerulopathy; Familial type 3 hyperlipoproteinemia | 2021-12-01 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002363475 | SCV002658314 | likely benign | Cardiovascular phenotype | 2022-02-14 | 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. |
| Ce |
RCV000960083 | SCV002543945 | likely benign | not provided | 2026-01-01 | criteria provided, single submitter | clinical testing | APOE: BP4, BP7 |
| Labcorp Genetics |
RCV000960083 | SCV001107031 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing |