Submissions for variant NM_020937.4(FANCM):c.4709G>A (p.Arg1570His)

Minimum review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total submissions: 5

Download table as spreadsheet

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV003229827	SCV003927595	uncertain significance	not provided	2022-11-23	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32566746)
Sema4, Sema4	RCV002256202	SCV002529860	uncertain significance	Hereditary cancer-predisposing syndrome	2021-05-29	criteria provided, single submitter	curation
Cancer Genomics Group, Japanese Foundation For Cancer Research	RCV001030549	SCV001193593	uncertain significance	Hereditary breast ovarian cancer syndrome	2019-05-01	criteria provided, single submitter	research
Labcorp Genetics (formerly Invitae), Labcorp	RCV000402989	SCV000558916	likely benign	Fanconi anemia	2025-01-19	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544559	SCV004766094	likely benign	FANCM-related disorder	2022-12-23	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).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.