Submissions for variant NM_000059.4(BRCA2):c.631+183T>A

gnomAD frequency: 0.32939  dbSNP: rs3752451

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)	RCV000191600	SCV000244977	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 0.4895 (Asian), 0.1992 (African), 0.3298 (European), derived from 1000 genomes (2012-04-30).
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000503132	SCV000591702	benign	not specified		criteria provided, single submitter	clinical testing
GeneKor MSA	RCV000503132	SCV000693626	benign	not specified	2017-11-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000191600	SCV000743247	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2014-10-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001675664	SCV001893608	benign	not provided	2018-06-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001675664	SCV005236028	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000503132	SCV001905697	benign	not specified		no assertion criteria provided	clinical testing