Submissions for variant NM_000249.4(MLH1):c.2082G>A (p.Glu694=)

gnomAD frequency: 0.00001  dbSNP: rs1057521441

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000417785	SCV000522835	likely benign	not specified	2016-11-03	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000460285	SCV000555971	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-10-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001181107	SCV001346189	likely benign	Hereditary cancer-predisposing syndrome	2018-11-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001181107	SCV002727791	likely benign	Hereditary cancer-predisposing syndrome	2017-09-29	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003114550	SCV003799365	likely benign	not provided	2022-02-28	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004000379	SCV004843273	likely benign	Lynch syndrome	2023-05-04	criteria provided, single submitter	clinical testing