Submissions for variant NM_000249.4(MLH1):c.954C>T (p.His318=)

gnomAD frequency: 0.00006  dbSNP: rs146777069

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000162434	SCV000212782	likely benign	Hereditary cancer-predisposing syndrome	2014-12-11	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.
GeneDx	RCV000420662	SCV000516838	benign	not specified	2015-08-10	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000473453	SCV000556012	benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-06	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162434	SCV000684884	likely benign	Hereditary cancer-predisposing syndrome	2016-10-07	criteria provided, single submitter	clinical testing
Counsyl	RCV000662528	SCV000785092	likely benign	Colorectal cancer, hereditary nonpolyposis, type 2	2017-04-12	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000420662	SCV000917658	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000162434	SCV002528790	likely benign	Hereditary cancer-predisposing syndrome	2021-09-25	criteria provided, single submitter	curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000662528	SCV004015878	benign	Colorectal cancer, hereditary nonpolyposis, type 2	2023-07-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000662528	SCV004018110	benign	Colorectal cancer, hereditary nonpolyposis, type 2	2023-03-13	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
CeGaT Center for Human Genetics Tuebingen	RCV003430719	SCV004149361	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	MLH1: BP4, BP7