ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2530C>T (p.His844Tyr)

dbSNP: rs1953188177
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV001261280 SCV005045858 pathogenic Kleefstra syndrome 1 criteria provided, single submitter curation
Autoinflammatory diseases unit, CHU de Montpellier RCV001261280 SCV001438265 likely pathogenic Kleefstra syndrome 1 2018-07-03 no assertion criteria provided clinical testing

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