Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000572991 | SCV000671016 | likely benign | Hereditary cancer-predisposing syndrome | 2017-04-19 | 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 | RCV000990249 | SCV000767712 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759248 | SCV000888475 | likely benign | not provided | 2017-12-10 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990249 | SCV001141134 | likely benign | Colorectal cancer, susceptibility to, 10 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000572991 | SCV002534698 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-13 | criteria provided, single submitter | curation | |
Prevention |
RCV003980056 | SCV004797306 | likely benign | POLD1-related condition | 2022-02-08 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |