ClinVar Miner

Submissions for variant GRCh37/hg19 2p25.3(chr2:10501-2386917)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 RCV001801227 SCV002047439 pathogenic Intellectual disability, autosomal dominant 39 2020-10-29 criteria provided, single submitter clinical testing

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