Submissions for variant NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=)

gnomAD frequency: 0.00625  dbSNP: rs114810692

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000462978	SCV000558933	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000503400	SCV000594722	benign	not specified	2019-06-26	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001121116	SCV001279668	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	RCV001121116	SCV002799838	benign	Fanconi anemia complementation group I	2021-08-16	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001121116	SCV004015671	benign	Fanconi anemia complementation group I	2023-07-07	criteria provided, single submitter	clinical testing