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 Lines of evidence used in support of classification: 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 2018-01-10 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000205619 SCV000469728 likely benign Lynch syndrome 2016-06-14 criteria provided, single submitter clinical testing
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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