Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000976192 | SCV001124091 | likely benign | Rhabdoid tumor predisposition syndrome 2 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002327198 | SCV002629997 | likely benign | Hereditary cancer-predisposing syndrome | 2021-07-06 | 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. |
Gene |
RCV003229001 | SCV003925898 | uncertain significance | not provided | 2023-05-12 | criteria provided, single submitter | clinical testing | In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge |