Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000606733 | SCV000721588 | likely benign | not specified | 2017-07-31 | 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 | RCV001088654 | SCV000751224 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000630268 | SCV001134331 | likely benign | not provided | 2018-09-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010259 | SCV001170428 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-27 | 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. |
All of Us Research Program, |
RCV004002529 | SCV004827611 | likely benign | Lynch syndrome | 2023-11-30 | criteria provided, single submitter | clinical testing |