ClinVar Miner

Submissions for variant GRCh38/hg38 19q13.2(chr19:42198610-42249880)x1

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wilkie Group, Clinical Genetics Lab, WIMM, University of Oxford RCV001374691 SCV001571609 pathogenic Syndromic intellectual disability 2021-01-01 no assertion criteria provided clinical testing

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