Submissions for variant NM_000249.4(MLH1):c.1452T>C (p.Asp484=)

gnomAD frequency: 0.00001  dbSNP: rs587778916

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163470	SCV000214023	likely benign	Hereditary cancer-predisposing syndrome	2014-11-19	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	RCV000524239	SCV000555980	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-11	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163470	SCV000689814	likely benign	Hereditary cancer-predisposing syndrome	2017-10-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001689615	SCV001907836	benign	not provided	2015-04-02	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV002265596	SCV002547919	likely benign	not specified	2022-05-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001689615	SCV004149365	likely benign	not provided	2023-03-01	criteria provided, single submitter	clinical testing	MLH1: BP4, BP7
All of Us Research Program, National Institutes of Health	RCV003997112	SCV004841012	likely benign	Lynch syndrome	2023-08-15	criteria provided, single submitter	clinical testing