ClinVar Miner

Submissions for variant NM_004387.4(NKX2-5):c.55A>G (p.Asn19Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004786168 SCV005401373 likely pathogenic not provided 2024-05-17 criteria provided, single submitter clinical testing Not observed in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24782644, 23778487)

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