ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.1339_1340insT (p.His447fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002283621 SCV002572556 pathogenic Spondylocostal dysostosis 1, autosomal recessive 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. It is predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. Therefore, this homozygous variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.

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