ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.534C>A (p.Cys178Ter)

dbSNP: rs1447189148
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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 RCV000677675 SCV000803817 likely pathogenic Spondylocostal dysostosis 1, autosomal recessive 2016-06-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000677675 SCV002809784 likely pathogenic Spondylocostal dysostosis 1, autosomal recessive 2021-08-25 criteria provided, single submitter clinical testing

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