Submissions for variant NM_007294.4(BRCA1):c.4987-68A>G

gnomAD frequency: 0.31542  dbSNP: rs8176234

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000112451	SCV000244643	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 0.3322 (Asian), 0.2175 (African), 0.3615 (European), derived from 1000 genomes (2012-04-30).
Color Diagnostics, LLC DBA Color Health	RCV000580916	SCV000683234	benign	Hereditary cancer-predisposing syndrome	2014-12-11	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000112451	SCV000743383	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2014-10-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001675613	SCV001893136	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002222159	SCV002025921	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
GreenArray Genomic Research & Solutions of Accurate Diagnostic Private Limited	RCV000112451	SCV002097596	benign	Breast-ovarian cancer, familial, susceptibility to, 1		criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001675613	SCV005251019	benign	not provided		criteria provided, single submitter	not provided
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112451	SCV000145247	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112451	SCV000145248	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2002-05-29	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV000502724	SCV000591556	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000502724	SCV001905800	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000502724	SCV001957461	benign	not specified		no assertion criteria provided	clinical testing