Submissions for variant NM_007294.4(BRCA1):c.4097-141A>C

dbSNP: rs799916

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000112254	SCV000244743	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 0.3304 (Asian), 0.2846 (African), 0.3681 (European), derived from 1000 genomes (2012-04-30).
GeneKor MSA	RCV000585641	SCV000693613	benign	not specified	2017-11-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000112254	SCV000743397	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2014-10-09	criteria provided, single submitter	clinical testing
GeneDx	RCV001682794	SCV001903432	benign	not provided	2018-06-23	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001682794	SCV005251053	benign	not provided		criteria provided, single submitter	not provided
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112254	SCV000144975	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1	2009-08-07	no assertion criteria provided	clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000114977	SCV000148877	untested	Familial cancer of breast		no assertion provided	not provided	Converted during submission to not provided.
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000585641	SCV001906215	benign	not specified		no assertion criteria provided	clinical testing