Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000231514 | SCV000288761 | benign | BAP1-related tumor predisposition syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000243594 | SCV000310603 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000231514 | SCV000445480 | likely benign | BAP1-related tumor predisposition syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001705267 | SCV000519036 | benign | not provided | 2019-04-11 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 28062663) |
Ambry Genetics | RCV000574757 | SCV000672734 | benign | Hereditary cancer-predisposing syndrome | 2015-10-14 | 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. |
Color Diagnostics, |
RCV000574757 | SCV000682646 | benign | Hereditary cancer-predisposing syndrome | 2016-03-18 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000243594 | SCV002046835 | benign | not specified | 2021-04-02 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000243594 | SCV002071063 | benign | not specified | 2019-08-23 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000243594 | SCV002550830 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003316289 | SCV004016333 | benign | Melanoma, uveal, susceptibility to, 2 | 2023-07-07 | criteria provided, single submitter | clinical testing |