ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.352-18C>G

gnomAD frequency: 0.29309  dbSNP: rs2304223
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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 RCV000253538 SCV000312766 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000253538 SCV000516240 benign not specified 2016-03-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome-Nilou Lab RCV001660334 SCV001876769 benign Spondylocostal dysostosis 1, autosomal recessive 2021-07-30 criteria provided, single submitter clinical testing
Invitae RCV002058267 SCV002410620 benign not provided 2024-02-01 criteria provided, single submitter clinical testing

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