Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000215730 | SCV000275897 | likely benign | Hereditary cancer-predisposing syndrome | 2015-05-14 | 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 |
RCV000432282 | SCV000523323 | likely benign | not specified | 2017-12-26 | 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 | RCV000460855 | SCV000562207 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000432282 | SCV000596470 | likely benign | not specified | 2016-08-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000215730 | SCV000686092 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000432282 | SCV002103535 | likely benign | not specified | 2022-02-05 | criteria provided, single submitter | clinical testing |