Submissions for variant NM_000135.4(FANCA):c.1900+7T>A

gnomAD frequency: 0.00009  dbSNP: rs377401016

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000557762	SCV000626158	benign	Fanconi anemia	2024-01-25	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821475	SCV002065266	likely benign	not specified	2019-04-30	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002490944	SCV002800386	likely benign	Fanconi anemia complementation group A	2021-08-05	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV002490944	SCV004017575	likely benign	Fanconi anemia complementation group A	2023-07-07	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV003326450	SCV004033515	uncertain significance	not provided	2023-08-01	criteria provided, single submitter	clinical testing	FANCA: PM2, BP4
PreventionGenetics, part of Exact Sciences	RCV003960254	SCV004773059	likely benign	FANCA-related disorder	2022-05-16	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).