ClinVar Miner

Submissions for variant NM_001356.5(DDX3X):c.864+2T>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Duke University Health System Sequencing Clinic, Duke University Health System RCV003223547 SCV003919090 likely pathogenic Intellectual disability, X-linked 102 2023-04-20 criteria provided, single submitter research
Juno Genomics, Hangzhou Juno Genomics, Inc RCV003223547 SCV005416034 uncertain significance Intellectual disability, X-linked 102 criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Moderate+PS2_Supporting

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