ClinVar Miner

Submissions for variant GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)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 Goettingen RCV000787284 SCV000926220 likely pathogenic Global developmental delay 2019-04-04 no assertion criteria provided clinical testing de novo in patient

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