ClinVar Miner

Submissions for variant GRCh37/hg19 1q21.1-21.2(chr1:146022474-147599371)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 RCV001801176 SCV002047388 pathogenic Chromosome 1q21.1 duplication syndrome 2020-12-30 criteria provided, single submitter clinical testing

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