Submissions for variant NM_007294.4(BRCA1):c.302-41T>C

dbSNP: rs8176135

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)	RCV000254990	SCV000321098	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2016-09-28	reviewed by expert panel	curation	Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0194 (South Asian), derived from 1000 genomes (2013-05-02).
GeneDx	RCV001551816	SCV001772402	likely benign	not provided	2018-08-11	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000254990	SCV004016797	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2023-07-07	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001689953	SCV004026822	benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV001689953	SCV001905980	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001689953	SCV001955539	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001689953	SCV001965535	benign	not specified		no assertion criteria provided	clinical testing