Submissions for variant NM_032043.3(BRIP1):c.94-18T>G

gnomAD frequency: 0.03086  dbSNP: rs2138005

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244798	SCV000314844	benign	not specified		criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000579580	SCV000684314	benign	Hereditary cancer-predisposing syndrome	2015-04-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001683123	SCV001900630	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001798747	SCV002043644	benign	Breast and/or ovarian cancer	2021-05-26	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002058369	SCV002405466	benign	Familial cancer of breast; Fanconi anemia complementation group J	2025-02-04	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV002225571	SCV002505053	benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000244798	SCV002551221	benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316451	SCV004016913	benign	Familial cancer of breast	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001683123	SCV005252924	benign	not provided		criteria provided, single submitter	not provided
Myriad Genetics, Inc.	RCV003316451	SCV005404137	benign	Familial cancer of breast	2024-08-09	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001683123	SCV005877233	benign	not provided	2024-10-10	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000244798	SCV001807533	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000244798	SCV001906346	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000244798	SCV001953365	benign	not specified		no assertion criteria provided	clinical testing