Submissions for variant NM_000179.3(MSH6):c.3261C>T (p.Pro1087=)

dbSNP: rs370226185

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000166109	SCV000216877	likely benign	Hereditary cancer-predisposing syndrome	2014-09-29	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.
PreventionGenetics, part of Exact Sciences	RCV000251703	SCV000302876	likely benign	not specified		criteria provided, single submitter	clinical testing
Counsyl	RCV000409606	SCV000489303	likely benign	Lynch syndrome 5	2016-09-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001704211	SCV000522088	likely benign	not provided	2021-02-18	criteria provided, single submitter	clinical testing
Invitae	RCV000526394	SCV000624840	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-09	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000166109	SCV000685378	likely benign	Hereditary cancer-predisposing syndrome	2016-11-15	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000409606	SCV004018906	benign	Lynch syndrome 5	2023-03-28	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.
All of Us Research Program, National Institutes of Health	RCV003995478	SCV004835034	likely benign	Lynch syndrome	2024-02-05	criteria provided, single submitter	clinical testing