Submissions for variant NM_032043.3(BRIP1):c.2307G>A (p.Leu769=)

dbSNP: rs1555590464

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000546651	SCV000633603	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2023-06-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000574495	SCV000668964	likely benign	Hereditary cancer-predisposing syndrome	2017-05-15	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	RCV000574495	SCV000689329	likely benign	Hereditary cancer-predisposing syndrome	2017-05-26	criteria provided, single submitter	clinical testing
GeneDx	RCV001551550	SCV001772079	uncertain significance	not provided	2020-12-16	criteria provided, single submitter	clinical testing	Not observed in large population cohorts (Lek 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316702	SCV004016909	likely benign	Familial cancer of breast	2023-07-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003316702	SCV005406029	benign	Familial cancer of breast	2024-09-04	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.