Submissions for variant NM_000179.3(MSH6):c.975A>G (p.Gln325=)

dbSNP: rs193922345

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000030278	SCV000052945	likely benign	Lynch syndrome	2011-08-18	criteria provided, single submitter	curation	Converted during submission to Likely benign.
GeneDx	RCV000423476	SCV000520528	likely benign	not specified	2016-09-23	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.
Invitae	RCV000805479	SCV000945436	likely benign	Hereditary nonpolyposis colorectal neoplasms	2024-01-05	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256010	SCV002536375	uncertain significance	Hereditary cancer-predisposing syndrome	2021-09-15	criteria provided, single submitter	curation
Ambry Genetics	RCV002256010	SCV002692776	likely benign	Hereditary cancer-predisposing syndrome	2020-03-20	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.