Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000048656 | SCV000076669 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000130538 | SCV000185407 | likely benign | Hereditary cancer-predisposing syndrome | 2018-11-19 | 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. |
Counsyl | RCV000112396 | SCV000220786 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2014-10-13 | criteria provided, single submitter | literature only | |
Gene |
RCV000442424 | SCV000520101 | likely benign | not specified | 2015-10-09 | 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, |
RCV000130538 | SCV000909012 | likely benign | Hereditary cancer-predisposing syndrome | 2018-04-02 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000112396 | SCV001140509 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477452 | SCV004219423 | likely benign | not provided | 2023-06-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003894900 | SCV004709184 | likely benign | BRCA1-related condition | 2023-06-12 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Breast Cancer Information Core |
RCV000112396 | SCV000145177 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2007-04-10 | no assertion criteria provided | clinical testing |