Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000468489 | SCV000545415 | likely benign | Hereditary diffuse gastric adenocarcinoma | 2023-11-07 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566934 | SCV000668994 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-09 | 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. |
Color Diagnostics, |
RCV000566934 | SCV000689535 | likely benign | Hereditary cancer-predisposing syndrome | 2020-09-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679576 | SCV000806671 | uncertain significance | not provided | 2017-04-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780097 | SCV000917138 | likely benign | not specified | 2019-08-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000679576 | SCV001944112 | benign | not provided | 2015-07-05 | criteria provided, single submitter | clinical testing |