ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.1291_1307dup (p.Pro437fs)

dbSNP: rs777791545
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004584594 SCV005074849 pathogenic not provided 2024-09-01 criteria provided, single submitter clinical testing DLL3: PVS1, PM3:Strong, PM2, PP4
OMIM RCV000007233 SCV000027429 pathogenic Spondylocostal dysostosis 1, autosomal recessive 2003-07-01 no assertion criteria provided literature only

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