ClinVar Miner

Submissions for variant NM_019074.4(DLL4):c.39A>T (p.Leu13=)

gnomAD frequency: 0.00021  dbSNP: rs202204117
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002122785 SCV002408304 benign not provided 2024-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003958728 SCV004774642 likely benign DLL4-related disorder 2020-02-21 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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