ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.5267_5270del (p.Glu1756fs) (rs1583513256)

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Total submissions: 2
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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 RCV000850421 SCV000992619 likely pathogenic Marfanoid habitus and intellectual disability criteria provided, single submitter research
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital RCV001269884 SCV001450215 pathogenic not provided 2017-03-22 criteria provided, single submitter clinical testing

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