ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.2929C>T (p.Gln977Ter)

dbSNP: rs2137711618
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Total submissions: 3
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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 RCV004720313 SCV005045829 pathogenic Kleefstra syndrome 1 criteria provided, single submitter curation
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702022 SCV001932890 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702022 SCV001959740 pathogenic not provided no assertion criteria provided clinical testing

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