Submissions for variant NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) (rs70953664)

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Total submissions: 19

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000113286	SCV000245031	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 0.0122 (African), derived from 1000 genomes (2012-04-30).
Invitae	RCV000656603	SCV000072388	benign	not provided	2019-03-05	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000120327	SCV000202286	benign	not specified	2015-05-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000162766	SCV000213243	benign	Hereditary cancer-predisposing syndrome	2014-11-19	criteria provided, single submitter	clinical testing
Counsyl	RCV000113286	SCV000220272	benign	Breast-ovarian cancer, familial 2	2014-04-25	criteria provided, single submitter	literature only
Vantari Genetics	RCV000162766	SCV000267016	likely benign	Hereditary cancer-predisposing syndrome	2015-12-21	criteria provided, single submitter	clinical testing
Michigan Medical Genetics Laboratories,University of Michigan	RCV000113286	SCV000267764	benign	Breast-ovarian cancer, familial 2	2016-04-21	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000167832	SCV000383695	likely benign	Hereditary breast and ovarian cancer syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000346290	SCV000383696	likely benign	Fanconi anemia	2016-06-14	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000167832	SCV000494351	benign	Hereditary breast and ovarian cancer syndrome	2014-03-06	criteria provided, single submitter	clinical testing
Fulgent Genetics,Fulgent Genetics	RCV000113286	SCV000575755	likely benign	Breast-ovarian cancer, familial 2	2016-01-29	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000120327	SCV000591896	benign	not specified	2013-08-13	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000120327	SCV000593716	likely benign	not specified	2017-02-28	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000120327	SCV000602745	benign	not specified	2016-09-01	criteria provided, single submitter	clinical testing
Color	RCV000162766	SCV000683605	likely benign	Hereditary cancer-predisposing syndrome	2015-03-06	criteria provided, single submitter	clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center	RCV000113286	SCV000744453	likely benign	Breast-ovarian cancer, familial 2	2015-09-21	criteria provided, single submitter	clinical testing
ITMI	RCV000120327	SCV000084479	not provided	not specified	2013-09-19	no assertion provided	reference population
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113286	SCV000146394	benign	Breast-ovarian cancer, familial 2	2002-05-29	no assertion criteria provided	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000656603	SCV000778673	likely benign	not provided	2017-07-24	no assertion criteria provided	clinical testing

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