Submissions for variant NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu)

gnomAD frequency: 0.07245  dbSNP: rs35875311

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252318	SCV000306643	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094278	SCV000394212	benign	Fanconi anemia complementation group I	2018-01-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000252318	SCV000603588	benign	not specified	2016-10-07	criteria provided, single submitter	clinical testing
Invitae	RCV000397179	SCV001000391	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001706322	SCV001897922	benign	not provided	2018-07-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001094278	SCV001933253	benign	Fanconi anemia complementation group I	2021-08-10	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001094278	SCV004015659	benign	Fanconi anemia complementation group I	2023-07-07	criteria provided, single submitter	clinical testing