ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.755C>G (p.Pro252Arg)

dbSNP: rs775614771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695118 SCV000823598 likely benign Kleefstra syndrome 1 2023-08-23 criteria provided, single submitter clinical testing
GeneDx RCV003322810 SCV004028210 uncertain significance not provided 2023-02-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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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