ClinVar Miner

Submissions for variant NM_001353345.2(SETD1B):c.4051_4052del (p.Pro1351fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004795662 SCV005417181 likely pathogenic Intellectual developmental disorder with seizures and language delay criteria provided, single submitter clinical testing PM2_Supporting+PS2_Supporting+PVS1_Strong

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