Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000165006 | SCV000215701 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-22 | 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. |
Invitae | RCV000230501 | SCV000284891 | likely benign | Familial cancer of breast | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000230501 | SCV000489659 | likely benign | Familial cancer of breast | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000431802 | SCV000512241 | benign | not specified | 2015-03-27 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV000165006 | SCV000537437 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-08 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000858607 | SCV000600170 | likely benign | not provided | 2022-11-09 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000431802 | SCV000918615 | likely benign | not specified | 2019-09-03 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000230501 | SCV001136193 | likely benign | Familial cancer of breast | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000165006 | SCV002526976 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-19 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV000230501 | SCV004019235 | benign | Familial cancer of breast | 2023-02-24 | 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. |
Center for Genomic Medicine, |
RCV000431802 | SCV004024861 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |