Submissions for variant NM_032043.3(BRIP1):c.1936-4C>T

gnomAD frequency: 0.00005  dbSNP: rs587780552

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000119210	SCV000153952	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2025-01-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000572306	SCV000661479	likely benign	Hereditary cancer-predisposing syndrome	2019-09-23	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health	RCV000572306	SCV000684168	likely benign	Hereditary cancer-predisposing syndrome	2015-06-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000605617	SCV000731024	likely benign	not specified	2017-08-09	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.
Myriad Genetics, Inc.	RCV004791270	SCV005405170	likely benign	Familial cancer of breast	2024-08-30	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	RCV004732690	SCV005350856	likely benign	BRIP1-related disorder	2020-04-03	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).