Submissions for variant NM_000135.4(FANCA):c.2799A>G (p.Leu933=)

gnomAD frequency: 0.00025  dbSNP: rs148250597

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000234002	SCV000283555	likely benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094432	SCV000399836	uncertain significance	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago	RCV001818560	SCV002065221	likely benign	not specified	2020-09-10	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000234002	SCV002534971	likely benign	Fanconi anemia	2021-12-16	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003477786	SCV004221982	likely benign	not provided	2022-11-29	criteria provided, single submitter	clinical testing