Submissions for variant NM_020937.4(FANCM):c.2517T>G (p.Ile839Met)

gnomAD frequency: 0.00076  dbSNP: rs61744648

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000227957	SCV000290511	likely benign	Fanconi anemia	2024-01-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001536588	SCV001753367	uncertain significance	not provided	2024-07-15	criteria provided, single submitter	clinical testing	In silico analysis indicates that this missense variant does not alter protein structure/function; Observed in individuals with breast cancer (PMID: 33471991); This variant is associated with the following publications: (PMID: 33471991)
Sema4, Sema4	RCV002256168	SCV002527335	uncertain significance	Hereditary cancer-predisposing syndrome	2021-10-07	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001536588	SCV004218744	likely benign	not provided	2023-07-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541448	SCV004783731	likely benign	FANCM-related disorder	2022-05-04	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).