Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000573189 | SCV000673536 | likely benign | Hereditary cancer-predisposing syndrome | 2021-08-04 | 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. |
Fulgent Genetics, |
RCV000764794 | SCV000895939 | uncertain significance | Colorectal cancer, susceptibility to, 1 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000867047 | SCV001008236 | benign | not provided | 2024-01-20 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000867047 | SCV004219779 | benign | not provided | 2022-08-30 | criteria provided, single submitter | clinical testing |