Submissions for variant NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) (rs2227943)

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000077285	SCV000244432	benign	Breast-ovarian cancer, familial 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 = 0.0000741
Invitae	RCV000656593	SCV000072068	benign	not provided	2019-03-05	criteria provided, single submitter	clinical testing
GeneDx	RCV000120345	SCV000167346	benign	not specified	2013-10-08	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,University of Michigan	RCV000077285	SCV000195970	benign	Breast-ovarian cancer, familial 2	2014-11-03	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000120345	SCV000202280	benign	not specified	2014-02-17	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000162622	SCV000213057	benign	Hereditary cancer-predisposing syndrome	2014-11-19	criteria provided, single submitter	clinical testing
Counsyl	RCV000077285	SCV000220279	benign	Breast-ovarian cancer, familial 2	2014-04-29	criteria provided, single submitter	literature only
Illumina Clinical Services Laboratory,Illumina	RCV000167848	SCV000383657	likely benign	Hereditary breast and ovarian cancer syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000299643	SCV000383658	likely benign	Fanconi anemia	2016-06-14	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000167848	SCV000494312	benign	Hereditary breast and ovarian cancer syndrome	2014-03-04	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000120345	SCV000591823	benign	not specified	2013-06-24	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000656593	SCV000602853	benign	not provided	2017-07-18	criteria provided, single submitter	clinical testing
Color	RCV000162622	SCV000683500	benign	Hereditary cancer-predisposing syndrome	2015-09-30	criteria provided, single submitter	clinical testing
PreventionGenetics,PreventionGenetics	RCV000120345	SCV000805676	benign	not specified	2016-11-02	criteria provided, single submitter	clinical testing
ITMI	RCV000120345	SCV000084497	not provided	not specified	2013-09-19	no assertion provided	reference population
Sharing Clinical Reports Project (SCRP)	RCV000077285	SCV000109082	benign	Breast-ovarian cancer, familial 2	2012-05-01	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000077285	SCV000146107	benign	Breast-ovarian cancer, familial 2	2002-05-29	no assertion criteria provided	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000656593	SCV000778655	benign	not provided	2018-02-28	no assertion criteria provided	clinical testing