Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001712676 | SCV000727286 | likely benign | not provided | 2020-11-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000652236 | SCV000774104 | likely benign | Tumor predisposition syndrome 3 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001019685 | SCV001181074 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-08 | 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, |
RCV001019685 | SCV002527182 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-29 | criteria provided, single submitter | curation |