Submissions for variant NM_020937.4(FANCM):c.30G>A (p.Gln10=)

gnomAD frequency: 0.00014  dbSNP: rs145745979

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000545488	SCV000626366	benign	Fanconi anemia	2023-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001788277	SCV002030872	uncertain significance	not provided	2024-09-27	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; In silico analysis indicates that this variant does not alter splicing
Sema4, Sema4	RCV002255432	SCV002527345	likely benign	Hereditary cancer-predisposing syndrome	2021-07-12	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001788277	SCV004134042	likely benign	not provided	2022-08-01	criteria provided, single submitter	clinical testing	FANCM: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001788277	SCV004218758	benign	not provided	2022-04-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004537900	SCV004740837	likely benign	FANCM-related disorder	2019-05-14	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).