ClinVar Miner

Submissions for variant GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bjornsson Lab, Johns Hopkins University School of Medicine RCV000859976 SCV000920777 pathogenic Kabuki syndrome 1 no assertion criteria provided clinical testing

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