Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166894 | SCV000217711 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-01 | 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 | RCV000456687 | SCV000562224 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000166894 | SCV000686127 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000605177 | SCV000729485 | likely benign | not specified | 2017-11-03 | 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 | RCV001284200 | SCV001469853 | likely benign | not provided | 2019-12-24 | criteria provided, single submitter | clinical testing |