ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1170G>A (p.Ala390=) (rs755578413)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164461 SCV000215105 likely benign Hereditary cancer-predisposing syndrome 2014-07-04 criteria provided, single submitter clinical testing
Invitae RCV001080100 SCV000285049 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000164461 SCV000686101 likely benign Hereditary cancer-predisposing syndrome 2017-02-06 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781743 SCV000920032 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000232574 SCV001134575 likely benign not provided 2019-01-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001162266 SCV001324213 uncertain significance Hereditary nonpolyposis colorectal cancer type 4 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.

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