ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter)

dbSNP: rs121918301
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV000003789 SCV001429323 likely pathogenic Kleefstra syndrome 1 2019-02-21 criteria provided, single submitter clinical testing
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV000003789 SCV005045815 pathogenic Kleefstra syndrome 1 criteria provided, single submitter curation
OMIM RCV000003789 SCV000023954 pathogenic Kleefstra syndrome 1 2006-08-01 no assertion criteria provided literature only
GeneReviews RCV000003789 SCV000087008 not provided Kleefstra syndrome 1 no assertion provided literature only
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579482 SCV001807427 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001579482 SCV001952273 pathogenic not provided no assertion criteria provided clinical testing

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