ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1467G>A (p.Glu489=) (rs542522853)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001083775 SCV000166375 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000162478 SCV000212851 likely benign Hereditary cancer-predisposing syndrome 2014-07-03 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Color RCV000162478 SCV000537439 likely benign Hereditary cancer-predisposing syndrome 2015-06-15 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679350 SCV000806173 likely benign not provided 2017-09-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000679350 SCV000888393 likely benign not provided 2018-06-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV001174591 SCV001337782 benign not specified 2020-01-16 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000162478 SCV000886700 likely benign Hereditary cancer-predisposing syndrome 2018-11-12 no assertion criteria provided clinical testing

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