ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1059A>G (p.Ala353=) (rs876660930)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214857 SCV000278745 likely benign Hereditary cancer-predisposing syndrome 2015-09-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
GeneDx RCV000608106 SCV000716702 likely benign not specified 2017-03-10 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.
Invitae RCV000558658 SCV000625502 likely benign Hereditary nonpolyposis colon cancer 2017-02-28 criteria provided, single submitter clinical testing

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