Submissions for variant NM_007294.4(BRCA1):c.442-34C>T

gnomAD frequency: 0.15730  dbSNP: rs799923

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000112677	SCV000244771	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 0.0122 (African), 0.219 (European), derived from 1000 genomes (2012-04-30).
Michigan Medical Genetics Laboratories, University of Michigan	RCV000112677	SCV000195883	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2014-11-03	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001711270	SCV000602667	benign	not provided	2020-04-24	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000580516	SCV000683182	benign	Hereditary cancer-predisposing syndrome	2015-03-05	criteria provided, single submitter	clinical testing
GeneKor MSA	RCV000503781	SCV000693601	benign	not specified	2017-11-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516949	SCV001725324	benign	Hereditary breast ovarian cancer syndrome	2024-01-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001711270	SCV001945233	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23249957, 27223485, 15564800)
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV001516949	SCV002026030	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited	RCV000112677	SCV002097607	benign	Breast-ovarian cancer, familial, susceptibility to, 1		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000580516	SCV002632039	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	RCV000112677	SCV004016748	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001711270	SCV005251088	benign	not provided		criteria provided, single submitter	not provided
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112677	SCV000145543	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000503781	SCV000591270	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000503781	SCV001906104	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000503781	SCV001928813	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000503781	SCV001956292	benign	not specified		no assertion criteria provided	clinical testing