Total submissions: 25
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000031283 | SCV001161599 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-06-18 | 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 = 1.76E-08 |
Gene |
RCV000123875 | SCV000167220 | benign | not specified | 2014-01-22 | 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, |
RCV000031283 | SCV000195876 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2014-11-03 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000031283 | SCV000220259 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2014-04-18 | criteria provided, single submitter | literature only | |
Labcorp Genetics |
RCV001080630 | SCV000252825 | benign | Hereditary breast ovarian cancer syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000768581 | SCV000324807 | likely benign | Breast and/or ovarian cancer | 2021-09-20 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000463254 | SCV000540989 | benign | Familial cancer of breast | 2017-02-23 | criteria provided, single submitter | clinical testing | |
Cancer Genetics and Genomics Laboratory, |
RCV000123875 | SCV000586863 | benign | not specified | 2017-04-18 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Molecular Medicine, |
RCV000123875 | SCV000588025 | likely benign | not specified | 2017-04-20 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000123875 | SCV000602683 | benign | not specified | 2016-09-25 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000580413 | SCV000683365 | benign | Hereditary cancer-predisposing syndrome | 2015-03-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679704 | SCV000806985 | likely benign | not provided | 2017-06-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000031283 | SCV001140650 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000123875 | SCV002760949 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Sharing Clinical Reports Project |
RCV000031283 | SCV000053888 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2006-02-23 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000031283 | SCV000144222 | uncertain significance | Breast-ovarian cancer, familial, susceptibility to, 1 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000123875 | SCV000591235 | benign | not specified | no assertion criteria provided | clinical testing | The c.81-14C>T was reported in the EPS project in 8 of 8600 (0.0009) in a European cohort and 1 of 4406 African American chromosomes, increasing the likelihood this is rare variant of unlikely clinical significance. Claes et al (2003) demonstrated by RT-PCR that there was no aberrant splicing increasing the likelihood this variant does not have clinical significance. dbSNPID rs80358006. This variant was identified in the UMD database 36x and it co-occurred with a second pathogenic variant 3 times. Judkins (2005) also report this variant as co-occurring with a second pathogenic variant, increasing the likelihood this variant does not have clinical significant. Myriad genetics classifies this variant as a polymorphsim (Personal communication). In summary, based on the above information, this variant is classified as benign. | |
Diagnostic Laboratory, |
RCV000031283 | SCV000733683 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion criteria provided | clinical testing | ||
Brotman Baty Institute, |
RCV000031283 | SCV001237809 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro | ||
Clinical Genetics Laboratory, |
RCV000123875 | SCV001906057 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000679704 | SCV001926382 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000679704 | SCV001955903 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000123875 | SCV001971102 | benign | not specified | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000123875 | SCV002036498 | benign | not specified | no assertion criteria provided | clinical testing | ||
BRCAlab, |
RCV000031283 | SCV004244199 | benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2020-03-02 | no assertion criteria provided | clinical testing |