Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000874457 | SCV001016634 | likely benign | Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001024576 | SCV001186610 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-07 | 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 |
RCV003148889 | SCV003836861 | uncertain significance | not provided | 2022-08-31 | criteria provided, single submitter | clinical testing | In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge |