ClinVar Miner

Submissions for variant GRCh37/hg19 16p11.2(chr16:29808153-30750270)x3

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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 RCV001801218 SCV002047430 pathogenic Chromosome 16p11.2 duplication syndrome 2020-10-27 criteria provided, single submitter clinical testing

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