Submissions for variant NM_000059.4(BRCA2):c.6938-120T>C

dbSNP: rs206080

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)	RCV000191887	SCV000245064	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 0.8902 (African), derived from 1000 genomes (2012-04-30).
GeneKor MSA	RCV000585686	SCV000693640	benign	not specified	2017-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001536652	SCV001753442	benign	not provided	2018-06-22	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000191887	SCV004016808	benign	Breast-ovarian cancer, familial, susceptibility to, 2	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001536652	SCV005236513	benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000585686	SCV001905708	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000585686	SCV001930991	benign	not specified		no assertion criteria provided	clinical testing