ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.410-40C>T

gnomAD frequency: 0.27956  dbSNP: rs2278440
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243976 SCV000312767 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000207 SCV001156712 benign Spondylocostal dysostosis 1, autosomal recessive 2018-07-19 criteria provided, single submitter clinical testing
GeneDx RCV001610695 SCV001836918 benign not provided 2018-06-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001610695 SCV005313793 benign not provided criteria provided, single submitter not provided

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