Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001080245 | SCV000287646 | benign | Colorectal cancer, susceptibility to, 10 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000759247 | SCV000521656 | likely benign | not provided | 2020-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000567467 | SCV000671038 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-08 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759247 | SCV000888474 | benign | not provided | 2017-11-02 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000567467 | SCV002534696 | benign | Hereditary cancer-predisposing syndrome | 2021-04-12 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV002465587 | SCV002761048 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003937897 | SCV004753646 | likely benign | POLD1-related condition | 2019-04-16 | 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). |