ClinVar Miner

Submissions for variant GRCh37/hg19 22q11.21(chr22:18660135-21737597)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 RCV001801214 SCV002047426 pathogenic Chromosome 22q11.2 deletion syndrome, distal 2021-11-02 criteria provided, single submitter clinical testing

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