ClinVar Miner

Submissions for variant NM_004444.5(EPHB4):c.1402G>A (p.Glu468Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV003224940 SCV003920967 likely pathogenic Capillary malformation-arteriovenous malformation 2 2022-06-07 criteria provided, single submitter clinical testing
GeneDx RCV004818304 SCV005439441 uncertain significance not provided 2024-06-17 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 to our knowledge

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