Submissions for variant NM_022725.4(FANCF):c.825G>A (p.Leu275=)

gnomAD frequency: 0.01879  dbSNP: rs36045913

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227286	SCV000290677	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000248205	SCV000314122	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001093959	SCV000370163	benign	Fanconi anemia complementation group F	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.
GeneDx	RCV001573004	SCV001851062	benign	not provided	2020-03-05	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 17924555)
Sema4, Sema4	RCV000227286	SCV002530505	benign	Fanconi anemia	2020-08-10	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001093959	SCV004017678	benign	Fanconi anemia complementation group F	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001573004	SCV004129944	benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	FANCF: BP4, BS1, BS2
Leiden Open Variation Database	RCV001093959	SCV001364579	pathogenic	Fanconi anemia complementation group F	2011-02-07	flagged submission	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Johan de Winter.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001573004	SCV001798255	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000248205	SCV001807292	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000248205	SCV001930705	benign	not specified		no assertion criteria provided	clinical testing