ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.5017G>A (p.Asp1673Asn)

gnomAD frequency: 0.00002  dbSNP: rs769563309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001800105 SCV002044215 uncertain significance not provided 2021-12-23 criteria provided, single submitter clinical testing 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 germline variant to our knowledge; This variant is associated with the following publications: (PMID: 34572812)
Labcorp Genetics (formerly Invitae), Labcorp RCV002034674 SCV002188071 benign CHARGE syndrome 2024-11-15 criteria provided, single submitter clinical testing

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