Submissions for variant NM_032043.3(BRIP1):c.507+9_507+10del

dbSNP: rs747185394

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000463341	SCV000558561	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2024-01-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000480669	SCV000566744	likely benign	not specified	2017-09-05	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	RCV000582312	SCV000689397	likely benign	Hereditary cancer-predisposing syndrome	2017-09-22	criteria provided, single submitter	clinical testing
Mendelics	RCV000990033	SCV001140797	likely benign	Familial cancer of breast	2019-05-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000480669	SCV004037906	uncertain significance	not specified	2023-08-04	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003478008	SCV004220725	likely benign	not provided	2022-05-16	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535460	SCV004745906	likely benign	BRIP1-related disorder	2019-05-16	criteria provided, single submitter	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).