Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495377 | SCV000578024 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to alter mRNA splicing (splicing prior 0.02; http://priors.hci.utah.edu/PRIORS/) and frequency 0.0031 (South Asian), derived from ExAC (2014-12-17). |
Ambry Genetics | RCV000216953 | SCV000273799 | likely benign | Hereditary cancer-predisposing syndrome | 2015-02-05 | 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 |
RCV000426692 | SCV000512368 | benign | not specified | 2015-04-29 | 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. |
Invitae | RCV001079751 | SCV000635455 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000216953 | SCV000683708 | benign | Hereditary cancer-predisposing syndrome | 2016-12-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000426692 | SCV000694875 | likely benign | not specified | 2021-01-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003891795 | SCV000805725 | benign | BRCA2-related condition | 2021-08-04 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000589188 | SCV000889071 | benign | not provided | 2022-11-08 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000426692 | SCV002066505 | likely benign | not specified | 2017-07-18 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000216953 | SCV002536143 | likely benign | Hereditary cancer-predisposing syndrome | 2021-04-03 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV000495377 | SCV004016835 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000426692 | SCV004027439 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing |