Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003743631 | SCV000261445 | likely benign | Familial adenomatous polyposis 1 | 2023-11-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563228 | SCV000667339 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-31 | 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, |
RCV000563228 | SCV000681569 | likely benign | Hereditary cancer-predisposing syndrome | 2016-11-18 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000563228 | SCV002533725 | likely benign | Hereditary cancer-predisposing syndrome | 2022-02-08 | criteria provided, single submitter | curation |