ClinVar Miner

Submissions for variant GRCh37/hg19 2p25.3(chr2:12770-2832894)x1

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bionano Laboratories RCV000846709 SCV000988831 pathogenic not provided 2017-12-21 no assertion criteria provided clinical testing
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea RCV003458261 SCV004175889 pathogenic Intellectual disability, autosomal dominant 39 no assertion criteria provided clinical testing

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