Submissions for variant NM_000249.4(MLH1):c.399A>G (p.Gly133=)

dbSNP: rs1559521083

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000678998	SCV002626179	likely benign	Hereditary cancer-predisposing syndrome	2015-11-27	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002532184	SCV003344283	likely benign	Hereditary nonpolyposis colorectal neoplasms	2023-04-29	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV005249017	SCV005900035	benign	Colorectal cancer, hereditary nonpolyposis, type 2	2024-11-19	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.
True Health Diagnostics	RCV000678998	SCV000805264	uncertain significance	Hereditary cancer-predisposing syndrome	2018-04-27	no assertion criteria provided	clinical testing