Submissions for variant NM_032043.3(BRIP1):c.380-17T>A

gnomAD frequency: 0.00034  dbSNP: rs200050729

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124025	SCV000167434	benign	not specified	2014-01-14	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV000580079	SCV000684275	likely benign	Hereditary cancer-predisposing syndrome	2015-07-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679789	SCV000807150	likely benign	not provided	2017-08-24	criteria provided, single submitter	clinical testing
Invitae	RCV001397865	SCV001599626	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2024-02-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000580079	SCV002533706	uncertain significance	Hereditary cancer-predisposing syndrome	2021-06-05	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000124025	SCV002760990	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149853	SCV003837719	likely benign	Breast and/or ovarian cancer	2023-06-05	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000679789	SCV004563958	likely benign	not provided	2023-01-06	criteria provided, single submitter	clinical testing
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute	RCV000679789	SCV001905977	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000679789	SCV001931369	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000679789	SCV001957858	likely benign	not provided		no assertion criteria provided	clinical testing