Submissions for variant NM_007294.4(BRCA1):c.*36C>G

gnomAD frequency: 0.01385  dbSNP: rs3092995

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)	RCV000112709	SCV000244519	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 0.08333 (African), derived from 1000 genomes (2012-04-30).
Michigan Medical Genetics Laboratories, University of Michigan	RCV000112709	SCV000195941	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2014-11-03	criteria provided, single submitter	clinical testing
Counsyl	RCV000112709	SCV000220267	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2014-04-23	criteria provided, single submitter	literature only
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000211010	SCV000267851	uncertain significance	Hereditary breast ovarian cancer syndrome	2016-04-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000112709	SCV000403050	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001711373	SCV000602693	benign	not provided	2019-10-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001711373	SCV001943240	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	RCV000211010	SCV002025891	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001689638	SCV002550937	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112709	SCV000145585	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1	2006-07-19	no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001689638	SCV001905863	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001711373	SCV001955892	likely benign	not provided		no assertion criteria provided	clinical testing