Submissions for variant NM_005591.4(MRE11):c.81G>A (p.Glu27=)

gnomAD frequency: 0.00006  dbSNP: rs190031653

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164037	SCV000214643	likely benign	Hereditary cancer-predisposing syndrome	2014-10-16	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Invitae	RCV001087268	SCV000558613	benign	Ataxia-telangiectasia-like disorder	2023-12-09	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000859260	SCV001144548	benign	not provided	2019-07-15	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000164037	SCV002538434	likely benign	Hereditary cancer-predisposing syndrome	2021-05-21	criteria provided, single submitter	curation
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000859260	SCV004220928	benign	not provided	2023-08-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003945281	SCV004761573	likely benign	MRE11-related condition	2019-11-12	criteria provided, single submitter	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).