Submissions for variant NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr)

gnomAD frequency: 0.00047  dbSNP: rs200161949

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178139	SCV000230144	uncertain significance	not provided	2014-07-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085637	SCV000558852	benign	Fanconi anemia	2025-02-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001818433	SCV002066489	likely benign	not specified	2021-04-16	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001085637	SCV002536442	likely benign	Fanconi anemia	2021-06-20	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000178139	SCV004698458	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	FANCB: BP4, BS2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000178139	SCV001799135	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000178139	SCV001973838	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967429	SCV004778004	likely benign	FANCB-related disorder	2023-10-31	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).