ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2217G>C (p.Leu739=) (rs752718686)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000781738 SCV000920026 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000834920 SCV000976692 likely benign not provided 2018-03-16 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 RCV001088714 SCV001052269 likely benign Hereditary nonpolyposis colon cancer 2019-12-31 criteria provided, single submitter clinical testing

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