Submissions for variant NM_032043.3(BRIP1):c.1629-11T>C

gnomAD frequency: 0.00007  dbSNP: rs375710640

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000124036	SCV000167445	benign	not specified	2014-05-24	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.
Illumina Laboratory Services, Illumina	RCV000383630	SCV000404608	uncertain significance	Fanconi anemia complementation group J	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Color Diagnostics, LLC DBA Color Health	RCV000580125	SCV000684146	likely benign	Hereditary cancer-predisposing syndrome	2015-11-09	criteria provided, single submitter	clinical testing
Counsyl	RCV000662400	SCV000784818	likely benign	Fanconi anemia complementation group J; Ovarian neoplasm	2016-12-15	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000124036	SCV002068101	likely benign	not specified	2020-04-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV002055435	SCV002386853	likely benign	Familial cancer of breast; Fanconi anemia complementation group J	2024-01-28	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000580125	SCV002531366	likely benign	Hereditary cancer-predisposing syndrome	2021-04-28	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV003315843	SCV004019419	likely benign	Familial cancer of breast	2023-03-01	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.