Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001403232 | SCV001605097 | likely benign | Peutz-Jeghers syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001525442 | SCV001735544 | likely benign | Hereditary cancer-predisposing syndrome | 2021-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001525442 | SCV002692177 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-26 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |