ClinVar Miner

Submissions for variant GRCh37/hg19 2q24.2(chr2:161561653-163178787)

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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 RCV001200908 SCV001371829 likely pathogenic Autistic behavior; Severe global developmental delay 2012-12-17 criteria provided, single submitter clinical testing

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