Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000216649 | SCV000276381 | likely benign | Hereditary cancer-predisposing syndrome | 2016-06-15 | 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. |
Gene |
RCV000420353 | SCV000512088 | benign | not specified | 2015-05-28 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV003535571 | SCV000562654 | benign | Familial adenomatous polyposis 1 | 2024-01-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000216649 | SCV000681884 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-06 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679086 | SCV000805471 | likely benign | not provided | 2017-06-12 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000420353 | SCV002046617 | benign | not specified | 2021-01-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000216649 | SCV002530810 | benign | Hereditary cancer-predisposing syndrome | 2021-08-03 | criteria provided, single submitter | curation | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000420353 | SCV004223086 | benign | not specified | 2023-11-22 | criteria provided, single submitter | clinical testing |