Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001704745 | SCV000717688 | likely benign | not provided | 2020-02-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000649813 | SCV000771647 | likely benign | BAP1-related tumor predisposition syndrome | 2023-09-20 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000771743 | SCV000904400 | likely benign | Hereditary cancer-predisposing syndrome | 2018-02-07 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000771743 | SCV002537275 | likely benign | Hereditary cancer-predisposing syndrome | 2020-08-12 | criteria provided, single submitter | curation | |
Ambry Genetics | RCV000771743 | SCV002723993 | likely benign | Hereditary cancer-predisposing syndrome | 2022-01-03 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001704745 | SCV004221377 | uncertain significance | not provided | 2022-11-04 | criteria provided, single submitter | clinical testing | To the best of our knowledge, the variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect BAP1 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant. |
Ce |
RCV001704745 | SCV004701184 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | BAP1: PM2:Supporting, BP4, BP7 |