ClinVar Miner

Submissions for variant NM_001273.5(CHD4):c.1040G>A (p.Arg347Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002690878 SCV002994852 benign not provided 2021-12-19 criteria provided, single submitter clinical testing
GeneDx RCV002690878 SCV003845479 uncertain significance not provided 2023-03-02 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; This variant is associated with the following publications: (PMID: 27535533)

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