Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000575751 | SCV000672777 | likely benign | Hereditary cancer-predisposing syndrome | 2017-02-09 | 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. |
Color Diagnostics, |
RCV000575751 | SCV000688002 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-17 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000869660 | SCV001011104 | likely benign | BAP1-related tumor predisposition syndrome | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000575751 | SCV002537280 | likely benign | Hereditary cancer-predisposing syndrome | 2020-08-25 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV002465723 | SCV002760310 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316745 | SCV004016326 | likely benign | Melanoma, uveal, susceptibility to, 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000869660 | SCV005404836 | benign | BAP1-related tumor predisposition syndrome | 2024-07-11 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |