Submissions for variant NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)

gnomAD frequency: 0.02234  dbSNP: rs1131660

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000120925	SCV000302475	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094357	SCV000399849	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000312324	SCV000558894	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001567400	SCV001791074	likely benign	not provided	2021-03-24	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000120925	SCV002046837	benign	not specified	2021-04-02	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001094357	SCV004017541	benign	Fanconi anemia complementation group A	2023-07-07	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001567400	SCV005219770	likely benign	not provided		criteria provided, single submitter	not provided
ITMI	RCV000120925	SCV000085093	not provided	not specified	2013-09-19	no assertion provided	reference population
Leiden Open Variation Database	RCV001094357	SCV001426070	likely benign	Fanconi anemia complementation group A	2020-02-28	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Sue Richards.
Natera, Inc.	RCV001094357	SCV001452869	benign	Fanconi anemia complementation group A	2020-09-16	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001567400	SCV001800075	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000120925	SCV001806892	benign	not specified		no assertion criteria provided	clinical testing