Submissions for variant NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys)

gnomAD frequency: 0.00006  dbSNP: rs142377616

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000470025	SCV000558874	likely benign	Fanconi anemia	2024-01-31	criteria provided, single submitter	clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153654	SCV003843264	benign	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV001256403	SCV004017591	likely benign	Fanconi anemia complementation group A	2023-07-07	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003478011	SCV004221992	likely benign	not provided	2023-07-19	criteria provided, single submitter	clinical testing
Leiden Open Variation Database	RCV001256403	SCV001425847	likely pathogenic	Fanconi anemia complementation group A	2020-02-28	no assertion criteria provided	curation	Curator: Arleen D. Auerbach. Submitter to LOVD: Myungshin Kim.
PreventionGenetics, part of Exact Sciences	RCV004742432	SCV005353429	likely benign	FANCA-related disorder	2024-08-01	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).