Submissions for variant NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met)

gnomAD frequency: 0.00039  dbSNP: rs146157131

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000514485	SCV000332142	uncertain significance	not provided	2015-06-24	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087773	SCV000558850	benign	Fanconi anemia	2024-11-24	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514485	SCV000610288	likely benign	not provided	2017-05-04	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001087773	SCV002534233	likely benign	Fanconi anemia	2021-10-13	criteria provided, single submitter	curation
Ambry Genetics	RCV002518813	SCV003715344	uncertain significance	Inborn genetic diseases	2021-12-07	criteria provided, single submitter	clinical testing	The c.1658C>T (p.T553M) alteration is located in exon 8 (coding exon 6) of the FANCB gene. This alteration results from a C to T substitution at nucleotide position 1658, causing the threonine (T) at amino acid position 553 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003947831	SCV004769312	likely benign	FANCB-related disorder	2019-04-24	no assertion criteria provided	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).