Submissions for variant NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly)

gnomAD frequency: 0.00038  dbSNP: rs143131218

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000236537	SCV000294252	benign	Fanconi anemia	2024-01-11	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390121	SCV000481909	benign	Fanconi anemia complementation group B	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.
Illumina Laboratory Services, Illumina	RCV000301708	SCV000481910	benign	VACTERL association, X-linked, with or without hydrocephalus	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.
Genetic Services Laboratory, University of Chicago	RCV000502067	SCV000594670	likely benign	not specified	2017-04-06	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000236537	SCV002536429	likely benign	Fanconi anemia	2021-11-08	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003437033	SCV004166562	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	FANCB: BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV003947808	SCV004770686	likely benign	FANCB-related condition	2021-12-28	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).