Submissions for variant NM_000135.4(FANCA):c.3198T>C (p.Ala1066=)

gnomAD frequency: 0.00158  dbSNP: rs17227071

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000862980	SCV001003563	benign	Fanconi anemia	2025-01-24	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001816951	SCV002065188	likely benign	not specified	2019-06-26	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000862980	SCV002534993	benign	Fanconi anemia	2020-10-23	criteria provided, single submitter	curation
Ambry Genetics	RCV004973042	SCV005584561	likely benign	Inborn genetic diseases	2024-10-04	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc.	RCV001276505	SCV001462884	benign	Fanconi anemia complementation group A	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003975390	SCV004789347	likely benign	FANCA-related disorder	2019-10-11	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).