Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003651913 | SCV000562647 | likely benign | Familial adenomatous polyposis 1 | 2023-09-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000575832 | SCV000667347 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-07 | 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. |
Color Diagnostics, |
RCV000575832 | SCV000681682 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000605703 | SCV000731190 | likely benign | not specified | 2018-01-23 | 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. |
Sema4, |
RCV000575832 | SCV002532632 | likely benign | Hereditary cancer-predisposing syndrome | 2020-11-09 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000605703 | SCV002550625 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003884566 | SCV004698934 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | APC: BP4, BP7 |