Submissions for variant NM_032043.3(BRIP1):c.2097+8A>C

gnomAD frequency: 0.00001  dbSNP: rs730881642

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000160355	SCV000210861	benign	not specified	2014-09-22	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000232767	SCV000291002	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2024-01-02	criteria provided, single submitter	clinical testing
Counsyl	RCV000410320	SCV000489925	likely benign	Fanconi anemia complementation group J	2016-08-09	criteria provided, single submitter	clinical testing
Counsyl	RCV000411863	SCV000489926	likely benign	Ovarian neoplasm	2016-08-09	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000579952	SCV000684183	likely benign	Hereditary cancer-predisposing syndrome	2016-10-14	criteria provided, single submitter	clinical testing
Mendelics	RCV000990004	SCV001140766	likely benign	Familial cancer of breast	2019-05-28	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV000990004	SCV001934461	likely benign	Familial cancer of breast	2021-02-26	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000990004	SCV004019364	likely benign	Familial cancer of breast	2023-02-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
PreventionGenetics, part of Exact Sciences	RCV004544468	SCV004763371	likely benign	BRIP1-related disorder	2019-02-22	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).