ClinVar Miner

Submissions for variant NM_001353345.2(SETD1B):c.4556C>G (p.Pro1519Arg)

dbSNP: rs1206117924
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003328742 SCV004035290 uncertain significance not provided 2023-03-14 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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