ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.3326A>G (p.Asp1109Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003136620 SCV003819432 uncertain significance Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2019-11-06 criteria provided, single submitter clinical testing
GeneDx RCV004775352 SCV005383920 uncertain significance not provided 2023-12-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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