Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166498 | SCV000217297 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-23 | 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. |
Gene |
RCV000463783 | SCV000529393 | likely benign | not provided | 2018-05-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081642 | SCV000557496 | likely benign | Familial cancer of breast | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000166498 | SCV000688101 | likely benign | Hereditary cancer-predisposing syndrome | 2017-07-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000463783 | SCV001153296 | likely benign | not provided | 2022-06-01 | criteria provided, single submitter | clinical testing | BARD1: BP4, BP7 |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000463783 | SCV001470140 | likely benign | not provided | 2023-09-16 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000166498 | SCV002526992 | likely benign | Hereditary cancer-predisposing syndrome | 2021-03-29 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV003320587 | SCV004024858 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |