Submissions for variant NM_000249.4(MLH1):c.762G>A (p.Lys254=)

gnomAD frequency: 0.00001  dbSNP: rs863224341

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000200322	SCV000253143	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000587140	SCV000696179	likely benign	not specified	2019-07-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001026642	SCV001189065	likely benign	Hereditary cancer-predisposing syndrome	2019-04-24	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	RCV001026642	SCV001345267	likely benign	Hereditary cancer-predisposing syndrome	2018-11-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001636721	SCV001849308	benign	not provided	2015-09-25	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003996959	SCV004840903	likely benign	Lynch syndrome	2023-05-31	criteria provided, single submitter	clinical testing