Submissions for variant NM_000179.2(MSH6):c.984C>T (p.Ser328=) (rs138143769)

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000212638	SCV000170349	benign	not specified	2014-02-14	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.
Ambry Genetics	RCV000126823	SCV000213111	likely benign	Hereditary cancer-predisposing syndrome	2014-06-24	criteria provided, single submitter	clinical testing
Invitae	RCV001081374	SCV000252632	benign	Hereditary nonpolyposis colorectal neoplasms	2019-12-31	criteria provided, single submitter	clinical testing
Counsyl	RCV000409252	SCV000488839	likely benign	Hereditary nonpolyposis colorectal cancer type 5	2016-06-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory,University of Chicago	RCV000212638	SCV000595846	likely benign	not specified	2017-04-17	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000212638	SCV000601624	benign	not specified	2017-05-01	criteria provided, single submitter	clinical testing
Color	RCV000126823	SCV000685532	benign	Hereditary cancer-predisposing syndrome	2015-09-22	criteria provided, single submitter	clinical testing
Integrated Genetics/Laboratory Corporation of America	RCV000588033	SCV000695936	benign	not provided	2016-01-04	criteria provided, single submitter	clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000212638	SCV000706960	likely benign	not specified	2017-04-28	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000588033	SCV000889513	benign	not provided	2017-05-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000212638	SCV001158617	benign	not specified	2019-06-21	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000409252	SCV001302621	likely benign	Hereditary nonpolyposis colorectal cancer type 5	2017-04-28	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.