Submissions for variant NM_000249.4(MLH1):c.1095T>C (p.Ser365=)

dbSNP: rs746800098

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000424856	SCV000513621	likely benign	not specified	2016-10-25	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000424856	SCV000601344	likely benign	not specified	2017-07-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000564502	SCV000664840	likely benign	Hereditary cancer-predisposing syndrome	2017-05-04	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.
Invitae	RCV000630395	SCV000751351	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-27	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000564502	SCV000904055	likely benign	Hereditary cancer-predisposing syndrome	2018-05-10	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003995964	SCV004840952	likely benign	Lynch syndrome	2023-11-20	criteria provided, single submitter	clinical testing