ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.240A>G (p.Val80=) (rs864622281)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080007 SCV000259960 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000410492 SCV000489318 likely benign Hereditary nonpolyposis colorectal cancer type 5 2016-09-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565482 SCV000669884 likely benign Hereditary cancer-predisposing syndrome 2015-06-12 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Rarity in general population databases (dbSNP, ESP, 1000 Genomes)
Integrated Genetics/Laboratory Corporation of America RCV000855621 SCV000695813 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000588097 SCV000805865 likely benign not provided 2018-01-17 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000410492 SCV001300594 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 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.
Color RCV000565482 SCV001347028 likely benign Hereditary cancer-predisposing syndrome 2016-02-24 criteria provided, single submitter clinical testing

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