ClinVar Miner

Submissions for variant NM_004975.4(KCNB1):c.1240A>G (p.Asn414Asp)

dbSNP: rs1601071071
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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 RCV000850450 SCV000992648 likely pathogenic Marfanoid habitus and intellectual disability criteria provided, single submitter research

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