ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.2573dup (p.Pro859fs)

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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 RCV004795627 SCV005417088 pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency criteria provided, single submitter clinical testing PM2_Supporting+PS2_Moderate+PVS1

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