Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001022237 | SCV001183951 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-09 | 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, |
RCV001022237 | SCV001342175 | likely benign | Hereditary cancer-predisposing syndrome | 2019-07-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003619737 | SCV004554923 | likely benign | PTEN hamartoma tumor syndrome | 2023-02-03 | criteria provided, single submitter | clinical testing |