ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2791G>A (p.Asp931Asn)

gnomAD frequency: 0.00001  dbSNP: rs745973990
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773023 SCV002003727 uncertain significance not provided 2021-04-26 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV003502602 SCV004290322 benign Kleefstra syndrome 1 2023-08-04 criteria provided, single submitter clinical testing

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