Submissions for variant NM_000179.3(MSH6):c.3852G>T (p.Thr1284=)

dbSNP: rs2229018

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030273	SCV000052940	benign	Lynch syndrome	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Benign.
Invitae	RCV000524189	SCV000283825	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000562221	SCV000669932	likely benign	Hereditary cancer-predisposing syndrome	2017-06-26	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Counsyl	RCV000662502	SCV000785025	likely benign	Lynch syndrome 5	2017-03-15	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000562221	SCV002051885	likely benign	Hereditary cancer-predisposing syndrome	2021-07-26	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000662502	SCV004019148	benign	Lynch syndrome 5	2023-03-30	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.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV003476904	SCV004222016	likely benign	not provided	2022-10-18	criteria provided, single submitter	clinical testing