Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001720063 | SCV000518906 | likely benign | not provided | 2020-10-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000470115 | SCV000558731 | likely benign | Colorectal cancer, susceptibility to, 10 | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000569365 | SCV000670944 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-21 | 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. |
Sema4, |
RCV000569365 | SCV002534635 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-07 | criteria provided, single submitter | curation | |
Prevention |
RCV003902506 | SCV004726386 | likely benign | POLD1-related condition | 2019-07-31 | 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). |