ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.681C>T (p.Ile227=) (rs188813057)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217572 SCV000276576 likely benign Hereditary cancer-predisposing syndrome 2015-06-24 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;Other data supporting benign classification
Invitae RCV001084446 SCV000562196 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
Color RCV000217572 SCV000686225 likely benign Hereditary cancer-predisposing syndrome 2017-04-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588055 SCV000697376 likely benign not specified 2019-08-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000462024 SCV001134606 likely benign not provided 2018-10-16 criteria provided, single submitter clinical testing

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