ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.596dup (p.Val200fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV004018035 SCV004847213 pathogenic Kleefstra syndrome 1 2023-05-15 criteria provided, single submitter clinical testing

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