Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552761 | SCV000632825 | likely benign | Birt-Hogg-Dube syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001017436 | SCV001178519 | likely benign | Hereditary cancer-predisposing syndrome | 2019-12-05 | 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. |
Gene |
RCV001551753 | SCV001772326 | likely benign | not provided | 2019-02-27 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV001017436 | SCV002530096 | likely benign | Hereditary cancer-predisposing syndrome | 2021-12-27 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001551753 | SCV004218911 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing |