ClinVar Miner

Submissions for variant NM_130466.4(UBE3B):c.2681dup (p.Asn894fs)

dbSNP: rs1592972259
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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 RCV000824873 SCV000965780 likely pathogenic Oculocerebrofacial syndrome, Kaufman type 2016-01-04 criteria provided, single submitter clinical testing

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