ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1106A>G (p.Lys369Arg)

dbSNP: rs2128747431
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001753256 SCV002007216 uncertain significance not provided 2020-02-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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