Submissions for variant NM_000135.4(FANCA):c.21G>T (p.Pro7=)

gnomAD frequency: 0.00509  dbSNP: rs115856189

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001094269	SCV000399894	benign	Fanconi anemia complementation group A	2018-01-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000395504	SCV000558862	benign	Fanconi anemia	2025-01-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000502149	SCV000594647	benign	not specified	2018-03-29	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000502149	SCV002774446	benign	not specified	2021-07-09	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001094269	SCV004017590	benign	Fanconi anemia complementation group A	2023-07-07	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001094269	SCV001459021	benign	Fanconi anemia complementation group A	2020-09-16	no assertion criteria provided	clinical testing