ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.336C>A (p.Ser112=) (rs34312619)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001082839 SCV000166281 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000163093 SCV000213599 likely benign Hereditary cancer-predisposing syndrome 2014-12-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000662370 SCV000430912 uncertain significance Lynch syndrome I 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
GeneDx RCV000420474 SCV000513649 benign not specified 2015-03-16 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000420474 SCV000601473 likely benign not specified 2017-05-04 criteria provided, single submitter clinical testing
Color RCV000163093 SCV000685080 likely benign Hereditary cancer-predisposing syndrome 2017-02-26 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000420474 SCV000696261 likely benign not specified 2019-09-03 criteria provided, single submitter clinical testing
Counsyl RCV000662370 SCV000784762 likely benign Lynch syndrome I 2017-11-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590813 SCV000889434 likely benign not provided 2017-05-04 criteria provided, single submitter clinical testing

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