Submissions for variant NM_000135.4(FANCA):c.1683G>A (p.Thr561=)

gnomAD frequency: 0.00011  dbSNP: rs143451067

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000526450	SCV000626150	benign	Fanconi anemia	2025-01-28	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001821474	SCV002071722	likely benign	not specified	2021-08-31	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000526450	SCV002534922	likely benign	Fanconi anemia	2021-05-20	criteria provided, single submitter	curation
Fulgent Genetics, Fulgent Genetics	RCV002497047	SCV002811158	likely benign	Fanconi anemia complementation group A	2021-07-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004975620	SCV005586459	likely benign	Inborn genetic diseases	2024-10-05	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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV002497047	SCV005880728	benign	Fanconi anemia complementation group A	2025-02-01	criteria provided, single submitter	clinical testing