ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1167A>G (p.Ala389=) (rs748920792)

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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 RCV000214433 SCV000273836 likely benign Hereditary cancer-predisposing syndrome 2015-02-03 criteria provided, single submitter clinical testing
Color RCV000214433 SCV000686100 likely benign Hereditary cancer-predisposing syndrome 2016-03-02 criteria provided, single submitter clinical testing
Invitae RCV000458872 SCV000562230 likely benign Hereditary nonpolyposis colon cancer 2017-10-10 criteria provided, single submitter clinical testing
PreventionGenetics RCV000679347 SCV000806164 likely benign not provided 2016-12-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507979 SCV000601809 likely benign not specified 2017-04-18 criteria provided, single submitter clinical testing

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