Submissions for variant NM_000179.3(MSH6):c.4002-4T>C

gnomAD frequency: 0.00001  dbSNP: rs370428032

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000164128	SCV000214743	likely benign	Hereditary cancer-predisposing syndrome	2019-12-30	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	RCV000412285	SCV000488893	uncertain significance	Lynch syndrome 5	2016-07-15	criteria provided, single submitter	clinical testing
GeneDx	RCV001721060	SCV000513707	likely benign	not provided	2018-06-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31159747)
Invitae	RCV000859424	SCV000561452	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-24	criteria provided, single submitter	clinical testing
GeneKor MSA	RCV000164128	SCV000822070	uncertain significance	Hereditary cancer-predisposing syndrome	2018-08-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000458512	SCV000837934	uncertain significance	Lynch syndrome	2018-07-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000164128	SCV000908441	likely benign	Hereditary cancer-predisposing syndrome	2017-05-07	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000164128	SCV002536310	uncertain significance	Hereditary cancer-predisposing syndrome	2021-12-10	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV000412285	SCV004018921	likely benign	Lynch syndrome 5	2023-03-28	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.
PreventionGenetics, part of Exact Sciences	RCV003907515	SCV004721633	likely benign	MSH6-related condition	2021-01-08	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).