ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3583_3594del (p.Val1195_Phe1198del)

dbSNP: rs1554908290
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502285 SCV000594524 likely pathogenic Kleefstra syndrome 1 2016-08-09 criteria provided, single submitter clinical testing
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV000502285 SCV005045876 pathogenic Kleefstra syndrome 1 criteria provided, single submitter curation

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