ClinVar Miner

Submissions for variant GRCh37/hg19 22q11.21(chr22:20609932-21576553)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 RCV003329503 SCV004036089 pathogenic Chromosome 22q11.2 deletion syndrome, distal 2022-04-08 criteria provided, single submitter clinical testing

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