Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556618 | SCV000655213 | benign | Tumor predisposition syndrome 3 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000566939 | SCV000674386 | benign | Hereditary cancer-predisposing syndrome | 2017-02-28 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Gene |
RCV001696957 | SCV000716920 | benign | not provided | 2019-11-19 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001821630 | SCV002068240 | benign | not specified | 2018-07-26 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV001821630 | SCV002550187 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |