Submissions for variant NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=)

gnomAD frequency: 0.41848  dbSNP: rs1138465

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251297	SCV000306649	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000348737	SCV000394231	benign	Fanconi anemia	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000329693	SCV000483522	likely benign	POLG-Related Spectrum Disorders	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000251297	SCV000603585	benign	not specified	2016-08-08	criteria provided, single submitter	clinical testing
Invitae	RCV000348737	SCV001000392	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001117649	SCV001275858	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.
GeneDx	RCV001706323	SCV001906819	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001117649	SCV001933275	benign	Fanconi anemia complementation group I	2021-08-10	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001117649	SCV004017701	benign	Fanconi anemia complementation group I	2023-07-07	criteria provided, single submitter	clinical testing