Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441743 | SCV000523504 | likely benign | not specified | 2016-01-18 | 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. |
Invitae | RCV003535713 | SCV000647758 | likely benign | Familial adenomatous polyposis 1 | 2024-01-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563752 | SCV000667293 | likely benign | Hereditary cancer-predisposing syndrome | 2015-04-09 | 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, |
RCV000563752 | SCV000687167 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000441743 | SCV001478616 | likely benign | not specified | 2021-01-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000563752 | SCV002531648 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-15 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000441743 | SCV002550669 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000441743 | SCV000691770 | uncertain significance | not specified | no assertion criteria provided | clinical testing |