Submissions for variant NM_000135.4(FANCA):c.1815G>A (p.Glu605=)

gnomAD frequency: 0.00003  dbSNP: rs773613283

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000870367	SCV001011861	likely benign	Fanconi anemia	2024-07-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004973097	SCV005583246	likely benign	Inborn genetic diseases	2024-11-25	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.	RCV001276554	SCV001462952	uncertain significance	Fanconi anemia complementation group A	2020-01-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004742666	SCV005344271	likely benign	FANCA-related disorder	2024-06-28	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).