ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.947dup (p.Tyr316Ter)

dbSNP: rs1555439545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523139 SCV000618368 pathogenic not provided 2025-02-20 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Diagnostic Laboratory, Strasbourg University Hospital RCV001260664 SCV001437756 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing

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