ClinVar Miner

Submissions for variant NM_014727.3(KMT2B):c.542G>A (p.Arg181Gln)

gnomAD frequency: 0.00001  dbSNP: rs368286257
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754868 SCV001996503 uncertain significance not provided 2020-08-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001754868 SCV002950087 benign not provided 2022-12-06 criteria provided, single submitter clinical testing

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