Submissions for variant NM_000249.4(MLH1):c.2013A>G (p.Glu671=)

gnomAD frequency: 0.00001  dbSNP: rs747503723

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000528362	SCV000625115	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-09-11	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001014081	SCV001174748	likely benign	Hereditary cancer-predisposing syndrome	2017-12-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Color Diagnostics, LLC DBA Color Health	RCV001014081	SCV001356444	likely benign	Hereditary cancer-predisposing syndrome	2019-11-11	criteria provided, single submitter	clinical testing
GeneDx	RCV001637064	SCV001852190	benign	not provided	2015-08-25	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004003717	SCV004843249	likely benign	Lynch syndrome	2023-04-28	criteria provided, single submitter	clinical testing