ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.941A>T (p.Asn314Ile)

dbSNP: rs2041315307
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001794757 SCV002032704 uncertain significance not provided 2021-12-11 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); 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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