ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3333C>G (p.Cys1111Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Center, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine RCV004819048 SCV005439134 likely pathogenic Kleefstra syndrome 1 2024-11-01 criteria provided, single submitter clinical testing PM1+PM6+PM2_Supporting+PP3

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