Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164137 | SCV000214753 | likely benign | Hereditary cancer-predisposing syndrome | 2016-09-22 | 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 | RCV000230403 | SCV000285077 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000427627 | SCV000525306 | likely benign | not specified | 2017-08-17 | 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. |
Color Diagnostics, |
RCV000164137 | SCV000686143 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-12 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000427627 | SCV000920050 | likely benign | not specified | 2019-08-29 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316017 | SCV004016592 | likely benign | Lynch syndrome 4 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477605 | SCV004218961 | likely benign | not provided | 2022-09-22 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000427627 | SCV004243283 | likely benign | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |