Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001083754 | SCV000071963 | benign | Hereditary breast and ovarian cancer syndrome | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000120312 | SCV000108605 | likely benign | not specified | 2018-01-16 | 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. |
Ambry Genetics | RCV000131496 | SCV000186485 | benign | Hereditary cancer-predisposing syndrome | 2018-09-11 | criteria provided, single submitter | clinical testing | Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign);Subpopulation frequency in support of benign classification |
Michigan Medical Genetics Laboratories, |
RCV000077272 | SCV000195967 | likely benign | Breast-ovarian cancer, familial 2 | 2014-11-03 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV000120312 | SCV000591791 | likely benign | not specified | 2016-10-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679159 | SCV000805666 | likely benign | not provided | 2017-07-11 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000120312 | SCV000859227 | likely benign | not specified | 2018-01-16 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000679159 | SCV000885100 | likely benign | not provided | 2017-07-17 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000679159 | SCV000889004 | benign | not provided | 2018-07-31 | criteria provided, single submitter | clinical testing | |
Color | RCV000131496 | SCV000902740 | benign | Hereditary cancer-predisposing syndrome | 2016-05-24 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000077272 | SCV001139022 | benign | Breast-ovarian cancer, familial 2 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000120312 | SCV000084464 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Sharing Clinical Reports Project |
RCV000077272 | SCV000109069 | uncertain significance | Breast-ovarian cancer, familial 2 | 2008-03-24 | no assertion criteria provided | clinical testing | |
Breast Cancer Information Core |
RCV000077272 | SCV000146011 | uncertain significance | Breast-ovarian cancer, familial 2 | 2002-05-29 | no assertion criteria provided | clinical testing | |
Pathway Genomics | RCV000077272 | SCV000187737 | likely benign | Breast-ovarian cancer, familial 2 | 2014-12-11 | no assertion criteria provided | clinical testing | |
CSER _CC_NCGL, |
RCV000148430 | SCV000190129 | uncertain significance | Breast neoplasm | 2014-06-01 | no assertion criteria provided | research |