ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3094G>A (p.Glu1032Lys)

gnomAD frequency: 0.00001  dbSNP: rs765569983
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000346902 SCV000334747 uncertain significance not provided 2015-09-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001238655 SCV001411480 likely benign Kleefstra syndrome 1 2023-07-07 criteria provided, single submitter clinical testing

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