Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000228627 | SCV000291433 | benign | Birt-Hogg-Dube syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000568886 | SCV000673414 | benign | Hereditary cancer-predisposing syndrome | 2015-10-29 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV001697686 | SCV000725826 | likely benign | not provided | 2021-03-07 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28873162) |
Sema4, |
RCV000568886 | SCV002530118 | likely benign | Hereditary cancer-predisposing syndrome | 2021-05-20 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV002479934 | SCV002774790 | benign | not specified | 2021-08-30 | criteria provided, single submitter | clinical testing |