Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441369 | SCV000522216 | likely benign | not specified | 2018-03-13 | 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 | RCV001081521 | SCV000558792 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000561262 | SCV000670928 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-12 | 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. |
Prevention |
RCV000679502 | SCV000806511 | likely benign | not provided | 2018-01-22 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000679502 | SCV000888450 | likely benign | not provided | 2019-06-16 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000441369 | SCV002065997 | likely benign | not specified | 2020-03-09 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000441369 | SCV002551975 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000679502 | SCV004140566 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | POLD1: BP4, BP7 |