Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000466111 | SCV000563745 | likely benign | BAP1-related tumor predisposition syndrome | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000564834 | SCV000672795 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-18 | 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, |
RCV000564834 | SCV000682590 | likely benign | Hereditary cancer-predisposing syndrome | 2017-05-19 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316635 | SCV004016339 | likely benign | Melanoma, uveal, susceptibility to, 2 | 2023-07-07 | criteria provided, single submitter | clinical testing |