ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.409+61G>A

gnomAD frequency: 0.00384  dbSNP: rs377405105
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000495 SCV001157389 likely benign Spondylocostal dysostosis 1, autosomal recessive 2018-07-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704397 SCV005208340 likely benign not provided criteria provided, single submitter not provided

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