Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000557217 | SCV000632900 | likely benign | Birt-Hogg-Dube syndrome | 2023-11-08 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV002258948 | SCV002530164 | likely benign | Hereditary cancer-predisposing syndrome | 2021-06-16 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV002258948 | SCV002683412 | likely benign | Hereditary cancer-predisposing syndrome | 2022-04-06 | 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. |