ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1533G>A (p.Thr511=) (rs542520309)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165520 SCV000216252 likely benign Hereditary cancer-predisposing syndrome 2014-08-01 criteria provided, single submitter clinical testing
Invitae RCV001084042 SCV000253287 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000440278 SCV000514202 benign not specified 2015-04-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000197108 SCV000601821 likely benign not provided 2018-10-09 criteria provided, single submitter clinical testing
Color RCV000165520 SCV000686134 likely benign Hereditary cancer-predisposing syndrome 2015-08-03 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000440278 SCV000920044 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing

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