Submissions for variant NM_000249.4(MLH1):c.1519T>C (p.Leu507=)

gnomAD frequency: 0.00001  dbSNP: rs864622718

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000205334	SCV000262048	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-11-08	criteria provided, single submitter	clinical testing
GeneDx	RCV001705179	SCV000515562	likely benign	not provided	2018-11-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000563881	SCV000669526	likely benign	Hereditary cancer-predisposing syndrome	2015-08-31	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	RCV000563881	SCV000911975	likely benign	Hereditary cancer-predisposing syndrome	2018-01-16	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003997665	SCV004841034	likely benign	Lynch syndrome	2023-07-10	criteria provided, single submitter	clinical testing