ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3317dup (p.Asn1106fs)

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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 RCV004819047 SCV005439133 pathogenic Kleefstra syndrome 1 2024-11-01 criteria provided, single submitter clinical testing PVS1+PM6+PM2_Supporting

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