ClinVar Miner

Submissions for variant NM_001170629.2(CHD8):c.3338del (p.Arg1113fs)

dbSNP: rs1594344768
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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 RCV000850415 SCV000992613 likely pathogenic Marfanoid habitus and intellectual disability criteria provided, single submitter research

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