Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000427259 | SCV000519146 | likely benign | not specified | 2015-09-30 | 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. |
Ambry Genetics | RCV000493751 | SCV000581427 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-05 | 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. |
Invitae | RCV003650587 | SCV000647572 | benign | Familial adenomatous polyposis 1 | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679065 | SCV000805430 | likely benign | not provided | 2017-11-20 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000493751 | SCV000911126 | likely benign | Hereditary cancer-predisposing syndrome | 2017-11-26 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000679065 | SCV002047004 | benign | not provided | 2021-04-29 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000427259 | SCV002819416 | benign | not specified | 2022-12-10 | criteria provided, single submitter | clinical testing |