Submissions for variant NM_000179.3(MSH6):c.261-14C>T

dbSNP: rs369366445

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV000581148	SCV000690281	likely benign	Hereditary cancer-predisposing syndrome	2016-10-06	criteria provided, single submitter	clinical testing
GeneDx	RCV000605910	SCV000729574	likely benign	not specified	2017-03-10	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
University of Washington Department of Laboratory Medicine, University of Washington	RCV000664311	SCV000788244	likely benign	Lynch syndrome	2018-02-01	criteria provided, single submitter	clinical testing	RNA studies for MSH6:c.261-14C>T indicate normal splicing. Only full length MSH6 transcripts are detected in patient’s lymphoblast and whole blood RNA. Equally expressed MSH6 alleles are detected in whole-blood RNA.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811084	SCV001473894	likely benign	not provided	2020-02-01	criteria provided, single submitter	clinical testing
Invitae	RCV002061849	SCV002478988	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-24	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000664311	SCV004822614	likely benign	Lynch syndrome	2023-11-30	criteria provided, single submitter	clinical testing