ClinVar Miner

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

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Total submissions: 12
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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.

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