Submissions for variant NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) (rs55816687)

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
GeneDx	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,University of Michigan	RCV000077272	SCV000195967	likely benign	Breast-ovarian cancer, familial 2	2014-11-03	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000120312	SCV000591791	likely benign	not specified	2016-10-14	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000679159	SCV000805666	likely benign	not provided	2017-07-11	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000120312	SCV000859227	likely benign	not specified	2018-01-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,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 (SCRP)	RCV000077272	SCV000109069	uncertain significance	Breast-ovarian cancer, familial 2	2008-03-24	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	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, University of Washington	RCV000148430	SCV000190129	uncertain significance	Breast neoplasm	2014-06-01	no assertion criteria provided	research