Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000227484 | SCV000287500 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000575651 | SCV000671088 | likely benign | Hereditary cancer-predisposing syndrome | 2015-09-30 | 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. |
Gene |
RCV001697611 | SCV000724318 | likely benign | not provided | 2020-01-25 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000575651 | SCV002529043 | benign | Hereditary cancer-predisposing syndrome | 2021-04-19 | criteria provided, single submitter | curation | |
Ce |
RCV001697611 | SCV004140556 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | POLD1: BP4, BP7 |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001697611 | SCV004219049 | benign | not provided | 2022-09-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955328 | SCV004767045 | likely benign | POLD1-related condition | 2019-07-09 | 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). |