Submissions for variant NM_007294.4(BRCA1):c.548-80T>C

gnomAD frequency: 0.00692  dbSNP: rs8176143

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000191397	SCV000244757	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 0.02846 (African), derived from 1000 genomes (2012-04-30).
GeneDx	RCV001562647	SCV001785443	likely benign	not provided	2018-06-21	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000191397	SCV004016757	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001562647	SCV005251082	benign	not provided		criteria provided, single submitter	not provided
University of Washington Department of Laboratory Medicine, University of Washington	RCV000208953	SCV000265011	likely benign	Hereditary cancer-predisposing syndrome	2015-12-01	no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001357298	SCV001552725	uncertain significance	Malignant tumor of breast		no assertion criteria provided	clinical testing