Submissions for variant NM_000059.3(BRCA2):c.425+67A>C (rs11571610)

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000113562	SCV000244962	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 0.1049 (Asian), 0.01423 (African), 0.03694 (European), derived from 1000 genomes (2012-04-30).
Department of Pathology and Laboratory Medicine,Sinai Health System	RCV000501114	SCV000591678	benign	not specified		criteria provided, single submitter	clinical testing
GeneKor MSA	RCV000501114	SCV000693624	benign	not specified	2017-11-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000113562	SCV000743239	benign	Breast-ovarian cancer, familial 2	2014-10-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001536569	SCV001753347	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000113562	SCV000146813	uncertain significance	Breast-ovarian cancer, familial 2	2010-12-17	no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology,Netherlands Cancer Institute	RCV000501114	SCV001905745	benign	not specified		no assertion criteria provided	clinical testing
Human Genetics - Radboudumc,Radboudumc	RCV000501114	SCV001956086	benign	not specified		no assertion criteria provided	clinical testing