Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001078917 | SCV000560281 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-10-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000775724 | SCV000910145 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-10 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000460389 | SCV001133506 | likely benign | not provided | 2019-01-24 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001194407 | SCV001363933 | likely benign | not specified | 2019-08-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000775724 | SCV002718261 | likely benign | Hereditary cancer-predisposing syndrome | 2022-09-19 | 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. |