ClinVar Miner

Submissions for variant GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4

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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 RCV003154827 SCV003843861 pathogenic Pallister-Killian syndrome 2019-10-08 no assertion criteria provided clinical testing

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