Submissions for variant NM_001018113.3(FANCB):c.1327-10T>C

gnomAD frequency: 0.53797  dbSNP: rs2905223

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079364	SCV000111234	benign	not specified	2013-10-28	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000079364	SCV000305852	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000348663	SCV000481925	benign	Fanconi anemia complementation group B	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.
Illumina Laboratory Services, Illumina	RCV000394031	SCV000481926	benign	VACTERL association, X-linked, with or without hydrocephalus	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.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000079364	SCV000539135	benign	not specified	2016-03-28	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000079364	SCV000603560	benign	not specified	2016-09-01	criteria provided, single submitter	clinical testing
Invitae	RCV000860237	SCV001000218	benign	Fanconi anemia	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000348663	SCV001934140	benign	Fanconi anemia complementation group B	2021-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV001711366	SCV001946729	benign	not provided	2018-12-04	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000860237	SCV002534219	benign	Fanconi anemia	2019-12-09	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000348663	SCV004017593	benign	Fanconi anemia complementation group B	2023-07-07	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV000851560	SCV000994633	likely benign	X-linked central congenital hypothyroidism with late-onset testicular enlargement	2020-02-28	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Yu Sun.