Submissions for variant NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile)

gnomAD frequency: 0.00008  dbSNP: rs771007866

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000501276	SCV000594672	uncertain significance	not specified	2017-04-03	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001516277	SCV001724539	benign	Fanconi anemia	2024-10-22	criteria provided, single submitter	clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV003237883	SCV002009621	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001516277	SCV002534218	benign	Fanconi anemia	2020-08-10	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV003237883	SCV004166571	likely benign	not provided	2024-03-01	criteria provided, single submitter	clinical testing	FANCB: PM5, BP4, BS2
PreventionGenetics, part of Exact Sciences	RCV004748791	SCV005348342	likely benign	FANCB-related disorder	2024-08-14	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).