ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3589C>T (p.Arg1197Trp)

dbSNP: rs137852727
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000055967 SCV000890107 likely pathogenic Kleefstra syndrome 1 2018-03-19 criteria provided, single submitter clinical testing
Laboratory of Genetics, Children's Clinical University Hospital Latvia RCV000055967 SCV005045846 pathogenic Kleefstra syndrome 1 criteria provided, single submitter curation
Clinical Genetics Center, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine RCV000055967 SCV005439135 likely pathogenic Kleefstra syndrome 1 2024-11-01 criteria provided, single submitter clinical testing PM1+PM6+PM2_Supporting+PP3
GeneReviews RCV000055967 SCV000087009 not provided Kleefstra syndrome 1 no assertion provided literature only

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