Submissions for variant NM_032043.3(BRIP1):c.*2090G>C

gnomAD frequency: 0.38290  dbSNP: rs60657820

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194841	SCV000246810	likely benign	not specified	2015-07-29	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000330408	SCV000404518	benign	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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Breakthrough Genomics, Breakthrough Genomics	RCV004703460	SCV005211175	likely benign	not provided		criteria provided, single submitter	not provided