ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.8225A>G (p.Asn2742Ser)

gnomAD frequency: 0.00001  dbSNP: rs1416636387
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002276287 SCV002562445 uncertain significance not provided 2022-02-15 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Revvity Omics, Revvity RCV002276287 SCV004235053 uncertain significance not provided 2023-05-11 criteria provided, single submitter clinical testing

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