Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000877487 | SCV001020229 | likely benign | Rhabdoid tumor predisposition syndrome 2 | 2023-04-09 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001015064 | SCV001175857 | likely benign | Hereditary cancer-predisposing syndrome | 2018-08-15 | 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. |
Sema4, |
RCV001015064 | SCV002532828 | uncertain significance | Hereditary cancer-predisposing syndrome | 2022-02-02 | criteria provided, single submitter | curation |