ClinVar Miner

Submissions for variant GRCh37/hg19 17p11.2(chr17:16829153-20361747)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 RCV001801179 SCV002047391 pathogenic Potocki-Lupski syndrome 2021-04-07 criteria provided, single submitter clinical testing

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