Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000233961 | SCV000291426 | likely benign | Birt-Hogg-Dube syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000492247 | SCV000580716 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-28 | 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 |
RCV001582792 | SCV001813473 | uncertain significance | not provided | 2023-05-02 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in a patient with spontaneous pneumothorax but does not meet diagnostic criteria for Birt-Hogg-Dub syndrome (Zhang et al., 2023); This variant is associated with the following publications: (PMID: 17028174, 30190612, 36410626) |
Sema4, |
RCV000492247 | SCV002530102 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-03-18 | criteria provided, single submitter | curation | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001582792 | SCV004218914 | likely benign | not provided | 2023-05-02 | criteria provided, single submitter | clinical testing |