Submissions for variant NM_000179.3(MSH6):c.4001+11_4001+35del

dbSNP: rs878853743

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228555	SCV000283831	likely benign	Lynch syndrome	2016-01-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001722208	SCV000572315	likely benign	not provided	2018-04-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 26483394)
Color Diagnostics, LLC DBA Color Health	RCV000771151	SCV000902972	likely benign	Hereditary cancer-predisposing syndrome	2015-11-17	criteria provided, single submitter	clinical testing
Invitae	RCV001400069	SCV001601870	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000771151	SCV002626227	likely benign	Hereditary cancer-predisposing syndrome	2020-04-07	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.