ClinVar Miner

Submissions for variant GRCh37/hg19 16p12.2(chr16:21747532-22824584)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001801219 SCV002047431 pathogenic Chromosome 16p12.1 deletion syndrome, 520kb 2021-11-23 criteria provided, single submitter clinical testing

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