ClinVar Miner

Submissions for variant NM_006015.6(ARID1A):c.5121_5124del (p.Gln1708fs)

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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 RCV004795635 SCV005417107 likely pathogenic Intellectual disability, autosomal dominant 14 criteria provided, single submitter clinical testing PM2_Supporting+PVS1_Strong+PS2_Supporting

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