ClinVar Miner

Submissions for variant NM_205768.3(ZBTB18):c.244_246dup (p.Pro82_Ala83insPro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001270416 SCV001450702 likely pathogenic Intellectual disability, autosomal dominant 22 2020-06-05 no assertion criteria provided clinical testing

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