Submissions for variant NM_000059.4(BRCA2):c.1910-74T>C

gnomAD frequency: 0.19842  dbSNP: rs2320236

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000191635	SCV000245020	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2015-01-12	reviewed by expert panel	curation	Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.07343 (Asian), 0.2703 (African), 0.2018 (European), derived from 1000 genomes (2012-04-30).
GeneKor MSA	RCV000585666	SCV000693631	benign	not specified	2017-11-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000191635	SCV000743269	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2014-10-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001711491	SCV001945425	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408853	SCV002719963	benign	Hereditary cancer-predisposing syndrome	2014-11-19	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics	RCV001711491	SCV005236039	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000585666	SCV001906086	benign	not specified		no assertion criteria provided	clinical testing