ClinVar Miner

Submissions for variant NM_001379403.1(WDR26):c.454del (p.Asp152fs)

dbSNP: rs1572227260
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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 RCV001027701 SCV001190279 pathogenic Skraban-Deardorff syndrome 2019-08-26 criteria provided, single submitter clinical testing

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