ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2867+5G>A

dbSNP: rs886039703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255220 SCV000322650 pathogenic not provided 2021-12-22 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss-of-function is a known mechanism of disease, and splice predictors support a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV003144184 SCV003831857 uncertain significance Kleefstra syndrome 1 2021-01-06 criteria provided, single submitter clinical testing

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