Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165520 | SCV000216252 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-01 | 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. |
Invitae | RCV001084042 | SCV000253287 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000440278 | SCV000514202 | benign | not specified | 2015-04-24 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000197108 | SCV000601821 | likely benign | not provided | 2020-01-10 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000165520 | SCV000686134 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000440278 | SCV000920044 | benign | not specified | 2022-03-21 | criteria provided, single submitter | clinical testing |