Submissions for variant NM_007294.4(BRCA1):c.5152+66G>A

gnomAD frequency: 0.30314  dbSNP: rs3092994

Total submissions: 20

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000112521	SCV000244611	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), 0.2154 (African), 0.3615 (European), derived from 1000 genomes (2012-04-30).
PreventionGenetics, part of Exact Sciences	RCV000242726	SCV000311799	benign	not specified		criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000579853	SCV000683261	benign	Hereditary cancer-predisposing syndrome	2014-12-10	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000242726	SCV000700744	benign	not specified	2016-11-09	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000112521	SCV000743379	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2014-10-09	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000112521	SCV000744596	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2015-09-21	criteria provided, single submitter	clinical testing
Counsyl	RCV000112521	SCV000785546	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2017-09-06	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001682750	SCV001158730	benign	not provided	2022-08-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001510118	SCV001717060	benign	Hereditary breast ovarian cancer syndrome	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001682750	SCV001898981	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 32846166, 30713775, 26092435, 27884173, 15564800)
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV001510118	SCV002025913	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited	RCV000112521	SCV002097595	benign	Breast-ovarian cancer, familial, susceptibility to, 1		criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000579853	SCV002537815	benign	Hereditary cancer-predisposing syndrome	2019-12-11	criteria provided, single submitter	curation
Ambry Genetics	RCV000579853	SCV002644826	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000112521	SCV004016738	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001682750	SCV005251013	benign	not provided		criteria provided, single submitter	not provided
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112521	SCV000145343	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000048825	SCV000148880	untested	Familial cancer of breast		no assertion provided	not provided	Converted during submission to not provided.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000242726	SCV000591585	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000242726	SCV001906439	benign	not specified		no assertion criteria provided	clinical testing