Submissions for variant NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys)

gnomAD frequency: 0.00063  dbSNP: rs149243307

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000205204	SCV000262245	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001115870	SCV001273885	benign	Fanconi anemia complementation group I	2017-05-12	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001804945	SCV002050921	likely benign	not specified	2021-12-10	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001804945	SCV002064652	benign	not specified	2018-11-08	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000205204	SCV002529830	benign	Fanconi anemia	2021-07-13	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001115870	SCV004015677	benign	Fanconi anemia complementation group I	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003401110	SCV004137592	benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	FANCI: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV003401110	SCV005213391	likely benign	not provided		criteria provided, single submitter	not provided