Submissions for variant NM_001113378.2(FANCI):c.1699-7C>A

gnomAD frequency: 0.00498  dbSNP: rs28446881

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000471365	SCV000558937	benign	Fanconi anemia	2025-01-30	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001115980	SCV001273998	benign	Fanconi anemia complementation group I	2017-04-27	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.
Fulgent Genetics, Fulgent Genetics	RCV001115980	SCV002803606	likely benign	Fanconi anemia complementation group I	2021-07-24	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001115980	SCV004015663	benign	Fanconi anemia complementation group I	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV004716505	SCV005294836	benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001115980	SCV005879200	benign	Fanconi anemia complementation group I	2024-05-07	criteria provided, single submitter	clinical testing