Submissions for variant NM_000135.4(FANCA):c.1359+10C>T

gnomAD frequency: 0.00557  dbSNP: rs34159559

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094424	SCV000399865	benign	Fanconi anemia complementation group A	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.
Invitae	RCV000385999	SCV000558882	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000501771	SCV000594641	benign	not specified	2018-03-29	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514654	SCV000610730	likely benign	not provided	2017-05-03	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000501771	SCV002774423	benign	not specified	2021-10-12	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV000385999	SCV002095043	benign	Fanconi anemia	2019-10-18	no assertion criteria provided	clinical testing