Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000113191 | SCV000244438 | benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2015-08-10 | reviewed by expert panel | curation | IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.0000000109 |
Invitae | RCV001082600 | SCV000072236 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000586379 | SCV000210592 | likely benign | not provided | 2019-05-29 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 17924331, 26243651, 21990134, 20127978, 24323938, 27124784, 24504028, 27495310, 28866612, 29349598, 25348012) |
Ambry Genetics | RCV000162698 | SCV000213153 | 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: 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. |
Color Diagnostics, |
RCV000162698 | SCV000683567 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-21 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000160220 | SCV000694704 | benign | not specified | 2020-09-21 | criteria provided, single submitter | clinical testing | Variant summary: BRCA2 c.3568C>T (p.Arg1190Trp) results in a non-conservative amino acid change in the encoded protein sequence. Three of four in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00011 in 251026 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast And Ovarian Cancer Syndrome (0.00011 vs 0.00075), allowing no conclusion about variant significance. c.3568C>T has been reported in the literature in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome. These reports do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Eight clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (benign/likely benign n=7, VUS n=1). In addition, one expert panel classified this variant as benign. Based on the evidence outlined above, the variant was classified as benign. |
Preventiongenetics, |
RCV000586379 | SCV000805695 | uncertain significance | not provided | 2018-01-05 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000160220 | SCV000889021 | benign | not specified | 2019-07-24 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000113191 | SCV001139067 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000586379 | SCV001148981 | likely benign | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | BRCA2: BP4 |
Genetic Services Laboratory, |
RCV000160220 | SCV002071369 | likely benign | not specified | 2021-02-26 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162698 | SCV002533808 | likely benign | Hereditary cancer-predisposing syndrome | 2021-02-25 | criteria provided, single submitter | curation | |
CHEO Genetics Diagnostic Laboratory, |
RCV003149677 | SCV003838152 | likely benign | Breast and/or ovarian cancer | 2023-05-23 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000160220 | SCV004027417 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Breast Cancer Information Core |
RCV000113191 | SCV000146257 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Department of Medical Genetics, |
RCV000113191 | SCV000301446 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 2016-05-01 | no assertion criteria provided | clinical testing | |
Institute for Biomarker Research, |
RCV001082600 | SCV002506602 | likely benign | Hereditary breast ovarian cancer syndrome | 2022-01-20 | no assertion criteria provided | clinical testing |