Total submissions: 20
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000114144 | SCV000245312 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-01-12 | reviewed by expert panel | curation | Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01748 (Asian), derived from 1000 genomes (2012-04-30). |
Labcorp Genetics |
RCV000045877 | SCV000073890 | benign | Hereditary breast ovarian cancer syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000114144 | SCV000154052 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2014-01-02 | criteria provided, single submitter | literature only | |
Gene |
RCV000124015 | SCV000167421 | benign | not specified | 2013-10-29 | 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. |
Michigan Medical Genetics Laboratories, |
RCV000114144 | SCV000267831 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-04-21 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000461516 | SCV000541043 | benign | Familial cancer of breast | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000124015 | SCV000592300 | benign | not specified | criteria provided, single submitter | clinical testing | ||
ARUP Laboratories, |
RCV000124015 | SCV000602835 | benign | not specified | 2016-12-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000579840 | SCV000684080 | benign | Hereditary cancer-predisposing syndrome | 2015-04-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000124015 | SCV000693647 | benign | not specified | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000114144 | SCV000743527 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2017-07-28 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000114144 | SCV000744790 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000124015 | SCV000805798 | benign | not specified | 2017-10-20 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000579840 | SCV002694192 | benign | Hereditary cancer-predisposing syndrome | 2014-11-19 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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. |
Center for Genomic Medicine, |
RCV000124015 | SCV002760741 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149695 | SCV003838183 | benign | Breast and/or ovarian cancer | 2022-04-29 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000114144 | SCV000147688 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 1999-04-12 | no assertion criteria provided | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000124015 | SCV001799044 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV000124015 | SCV001906098 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001723636 | SCV001955397 | likely benign | not provided | no assertion criteria provided | clinical testing |