Submissions for variant NM_020937.4(FANCM):c.3547T>C (p.Leu1183=)

gnomAD frequency: 0.00318  dbSNP: rs142667852

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000470823	SCV000558911	benign	Fanconi anemia	2025-01-24	criteria provided, single submitter	clinical testing
GeneDx	RCV001591121	SCV001826204	likely benign	not provided	2021-09-19	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19737859)
Genetic Services Laboratory, University of Chicago	RCV001821347	SCV002067587	likely benign	not specified	2021-10-11	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002257747	SCV002527354	likely benign	Hereditary cancer-predisposing syndrome	2021-05-30	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001821347	SCV002774679	benign	not specified	2021-08-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004975550	SCV005580735	likely benign	Inborn genetic diseases	2024-10-02	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	RCV005235322	SCV005880743	benign	Premature ovarian failure 15	2025-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004535466	SCV004720405	benign	FANCM-related disorder	2019-09-18	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).