Submissions for variant NM_000249.4(MLH1):c.1815A>G (p.Glu605=)

dbSNP: rs767748815

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000431398	SCV000523818	likely benign	not specified	2016-01-29	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	RCV000936163	SCV001081926	likely benign	Hereditary nonpolyposis colorectal neoplasms	2022-09-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002411334	SCV002714105	likely benign	Hereditary cancer-predisposing syndrome	2020-10-05	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	RCV002411334	SCV004359253	likely benign	Hereditary cancer-predisposing syndrome	2022-05-23	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV004000395	SCV004843218	likely benign	Lynch syndrome	2023-08-15	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000431398	SCV005039191	likely benign	not specified	2024-03-23	criteria provided, single submitter	clinical testing