ClinVar Miner

Submissions for variant NM_005618.4(DLL1):c.303C>A (p.Asp101Glu)

gnomAD frequency: 0.00025  dbSNP: rs201394102
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001576303 SCV001803461 uncertain significance not provided 2020-04-22 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
Labcorp Genetics (formerly Invitae), Labcorp RCV001576303 SCV002326850 benign not provided 2023-12-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980715 SCV004793132 likely benign DLL1-related disorder 2020-12-14 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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