ClinVar Miner

Submissions for variant NM_203486.3(DLL3):c.1152G>A (p.Ala384=)

gnomAD frequency: 0.01391  dbSNP: rs115456333
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244502 SCV000312761 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000244502 SCV000517176 benign not specified 2016-10-31 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000959554 SCV001106467 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003617806 SCV004562919 benign Spondylocostal dysostosis 1, autosomal recessive 2023-11-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000959554 SCV005313804 benign not provided criteria provided, single submitter not provided

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