ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) (rs6972869)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130271 SCV000185116 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing Seen in trans with a mutation or in homozygous state in individual without severe disease for that gene
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000174013 SCV000225237 benign not specified 2014-08-06 criteria provided, single submitter clinical testing
Invitae RCV000524438 SCV000262045 benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205619 SCV000469728 likely benign 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Color RCV000130271 SCV000686138 benign Hereditary cancer-predisposing syndrome 2015-04-22 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000174013 SCV000806178 benign not specified 2017-02-02 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000130271 SCV000788105 likely benign Hereditary cancer-predisposing syndrome 2017-10-26 no assertion criteria provided clinical testing

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