ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp)

dbSNP: rs104894674
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004724730 SCV005333776 uncertain significance not provided 2024-03-29 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; This variant is associated with the following publications: (PMID: 12791036, 12746394, 14708096, 17041936, 10742114, 36506336, 11377959)
OMIM RCV000007232 SCV000027428 pathogenic Spondylocostal dysostosis 1, autosomal recessive 2000-04-01 no assertion criteria provided literature only

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