Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001025200 | SCV001187341 | likely benign | Hereditary cancer-predisposing syndrome | 2019-10-23 | 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 | RCV001487780 | SCV001692277 | likely benign | Li-Fraumeni syndrome | 2022-02-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001025200 | SCV002582555 | likely benign | Hereditary cancer-predisposing syndrome | 2022-06-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002290556 | SCV002582857 | likely benign | Li-Fraumeni syndrome 1 | 2022-06-18 | criteria provided, single submitter | clinical testing |