Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001025157 | SCV001187292 | likely benign | Hereditary cancer-predisposing syndrome | 2019-11-07 | 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. |
Color Diagnostics, |
RCV001025157 | SCV001342108 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001495147 | SCV001699816 | likely benign | Li-Fraumeni syndrome | 2022-01-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001025157 | SCV002582556 | likely benign | Hereditary cancer-predisposing syndrome | 2022-06-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002290555 | SCV002582858 | likely benign | Li-Fraumeni syndrome 1 | 2022-06-18 | criteria provided, single submitter | clinical testing |