Submissions for variant NM_007294.4(BRCA1):c.213-161A>G

gnomAD frequency: 0.49747  dbSNP: rs799912

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)	RCV000112024	SCV000244795	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2015-01-12	reviewed by expert panel	curation	Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3304 (Asian), 0.126 (African), 0.3694 (European), derived from 1000 genomes (2012-04-30).
GeneKor MSA	RCV000585719	SCV000693598	benign	not specified	2017-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001647080	SCV001856298	benign	not provided	2018-06-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002415590	SCV002726142	benign	Hereditary cancer-predisposing syndrome	2014-11-18	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.
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112024	SCV000144672	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1	2009-08-07	no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000585719	SCV001906384	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000585719	SCV001928217	benign	not specified		no assertion criteria provided	clinical testing