Submissions for variant NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)

gnomAD frequency: 0.00025  dbSNP: rs56369086

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233082	SCV000283549	benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV001333235	SCV001525760	uncertain significance	Fanconi anemia complementation group A	2018-01-09	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV002225374	SCV002504507	likely benign	not provided	2021-05-13	criteria provided, single submitter	clinical testing	See Variant Classification Assertion Criteria.
Sema4, Sema4	RCV000233082	SCV002534939	uncertain significance	Fanconi anemia	2021-08-12	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001333235	SCV004017580	likely benign	Fanconi anemia complementation group A	2023-07-07	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV002225374	SCV004221949	likely benign	not provided	2022-11-03	criteria provided, single submitter	clinical testing
ITMI	RCV000120924	SCV000085092	not provided	not specified	2013-09-19	no assertion provided	reference population
PreventionGenetics, part of Exact Sciences	RCV003952596	SCV004772654	likely benign	FANCA-related disorder	2021-02-04	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).