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

Minimum review status:		Collection method:
Minimum conflict level:
		ClinVar version:

Total submissions: 19

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000120327	SCV000602745	benign	not specified	2016-09-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000162766	SCV000213243	benign	Hereditary cancer-predisposing syndrome	2014-11-19	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113286	SCV000146394	benign	Breast-ovarian cancer, familial 2	2002-05-29	no assertion criteria provided	clinical testing
Color	RCV000162766	SCV000683605	likely benign	Hereditary cancer-predisposing syndrome	2015-03-06	criteria provided, single submitter	clinical testing
Counsyl	RCV000113286	SCV000220272	benign	Breast-ovarian cancer, familial 2	2014-04-25	criteria provided, single submitter	literature only
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
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000120327	SCV000591896	benign	not specified	2013-08-13	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
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).
Fulgent Genetics,Fulgent Genetics	RCV000113286	SCV000575755	likely benign	Breast-ovarian cancer, familial 2	2016-01-29	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
ITMI	RCV000120327	SCV000084479	not provided	not specified	2013-09-19	no assertion provided	reference population
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
Invitae	RCV000167832	SCV000072388	benign	Hereditary breast and ovarian cancer syndrome	2018-01-16	criteria provided, single submitter	clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic	RCV000656603	SCV000778673	likely benign	not provided	2017-07-24	no assertion criteria provided	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
Vantari Genetics	RCV000162766	SCV000267016	likely benign	Hereditary cancer-predisposing syndrome	2015-12-21	criteria provided, single submitter	clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.