ClinVar Miner

Submissions for variant NM_205768.3(ZBTB18):c.1355G>A (p.Cys452Tyr)

dbSNP: rs1572531830
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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 RCV000825017 SCV000966211 likely pathogenic Intellectual disability, autosomal dominant 22 2018-09-25 criteria provided, single submitter clinical testing

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