Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000567172 | SCV000673408 | likely benign | Hereditary cancer-predisposing syndrome | 2023-06-06 | 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. |
Invitae | RCV000704120 | SCV000833055 | likely benign | Birt-Hogg-Dube syndrome | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV002285368 | SCV002575192 | uncertain significance | not provided | 2022-09-23 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge |
Baylor Genetics | RCV000704120 | SCV004195372 | uncertain significance | Birt-Hogg-Dube syndrome | 2022-07-25 | criteria provided, single submitter | clinical testing |