Submissions for variant NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu)

gnomAD frequency: 0.00243  dbSNP: rs151071546

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000233464	SCV000290507	benign	Fanconi anemia	2025-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV001570689	SCV001795024	uncertain significance	not provided	2025-03-17	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in cases and controls in a breast cancer study (PMID: 33471991); This variant is associated with the following publications: (PMID: 33471991)
Genetic Services Laboratory, University of Chicago	RCV001820757	SCV002069029	likely benign	not specified	2021-06-18	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002255337	SCV002527306	uncertain significance	Hereditary cancer-predisposing syndrome	2022-02-07	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001820757	SCV002774601	benign	not specified	2021-07-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001570689	SCV005911147	likely benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	FANCM: BP4, BS2