Submissions for variant NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) (rs56248502)

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Total submissions: 24

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000656601	SCV000602753	benign	not provided	2017-05-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000131014	SCV000185940	benign	Hereditary cancer-predisposing syndrome	2014-07-29	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000469910	SCV000541050	benign	Familial cancer of breast	2017-02-23	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113272	SCV000146371	uncertain significance	Breast-ovarian cancer, familial 2	2002-05-29	no assertion criteria provided	clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario	RCV000770724	SCV000902203	benign	Breast and/or ovarian cancer	2016-03-08	criteria provided, single submitter	clinical testing
Color	RCV000131014	SCV000683601	benign	Hereditary cancer-predisposing syndrome	2015-03-06	criteria provided, single submitter	clinical testing
Counsyl	RCV000113272	SCV000220319	benign	Breast-ovarian cancer, familial 2	2014-05-14	criteria provided, single submitter	literature only
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	RCV000113272	SCV000744451	benign	Breast-ovarian cancer, familial 2	2017-05-31	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000120319	SCV000591890	benign	not specified	2013-01-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen	RCV000113272	SCV000733253	benign	Breast-ovarian cancer, familial 2		no assertion criteria provided	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000120319	SCV000225186	benign	not specified	2014-07-16	criteria provided, single submitter	clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000113272	SCV000245030	benign	Breast-ovarian cancer, familial 2	2015-01-12	reviewed by expert panel	curation	Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02236 (African), derived from 1000 genomes (2012-04-30).
Genetic Services Laboratory, University of Chicago	RCV000120319	SCV000593715	likely benign	not specified	2017-01-12	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht	RCV000113272	SCV000743295	benign	Breast-ovarian cancer, familial 2	2017-07-28	criteria provided, single submitter	clinical testing
ITMI	RCV000120319	SCV000084471	not provided	not specified	2013-09-19	no assertion provided	reference population
Illumina Clinical Services Laboratory,Illumina	RCV000044344	SCV000383693	likely benign	Hereditary breast and ovarian cancer syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000389513	SCV000383694	likely benign	Fanconi anemia	2016-06-14	criteria provided, single submitter	clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.	RCV000131014	SCV000679717	likely benign	Hereditary cancer-predisposing syndrome	2017-07-12	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000044344	SCV000494323	benign	Hereditary breast and ovarian cancer syndrome	2014-04-15	criteria provided, single submitter	clinical testing
Invitae	RCV000044344	SCV000072357	benign	Hereditary breast and ovarian cancer syndrome	2018-01-12	criteria provided, single submitter	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000656601	SCV000778671	likely benign	not provided	2017-08-09	no assertion criteria provided	clinical testing
Michigan Medical Genetics Laboratories,University of Michigan	RCV000113272	SCV000195981	benign	Breast-ovarian cancer, familial 2	2016-04-21	criteria provided, single submitter	clinical testing
PreventionGenetics	RCV000120319	SCV000805704	benign	not specified	2016-11-22	criteria provided, single submitter	clinical testing
True Health Diagnostics	RCV000131014	SCV000787929	likely benign	Hereditary cancer-predisposing syndrome	2018-01-03	no assertion criteria provided	clinical testing

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