Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462559 | SCV000549455 | likely benign | Birt-Hogg-Dube syndrome | 2023-12-28 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV000462559 | SCV000928356 | uncertain significance | Birt-Hogg-Dube syndrome | 2018-06-10 | criteria provided, single submitter | clinical testing | PP3 |
Ambry Genetics | RCV001010630 | SCV001170856 | likely benign | Hereditary cancer-predisposing syndrome | 2022-08-02 | 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 |
RCV001584159 | SCV001810730 | uncertain significance | not provided | 2023-11-08 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 27149842, 17028174) |