Submissions for variant NM_020937.4(FANCM):c.3681A>G (p.Leu1227=)

gnomAD frequency: 0.00047  dbSNP: rs61749475

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000868203	SCV001009505	likely benign	Fanconi anemia	2024-10-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001566056	SCV001789522	uncertain significance	not provided	2025-03-21	criteria provided, single submitter	clinical testing	In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Genetic Services Laboratory, University of Chicago	RCV001816983	SCV002069558	likely benign	not specified	2021-08-12	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001566056	SCV004218781	likely benign	not provided	2022-12-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004973081	SCV005582854	likely benign	Inborn genetic diseases	2024-11-18	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.
PreventionGenetics, part of Exact Sciences	RCV004540209	SCV004763532	likely benign	FANCM-related disorder	2019-04-09	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).