ClinVar Miner

Submissions for variant NM_005618.4(DLL1):c.2076G>A (p.Pro692=)

gnomAD frequency: 0.00850  dbSNP: rs75652420
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884635 SCV001028028 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV000884635 SCV001817242 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000884635 SCV005226303 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003910449 SCV004726252 benign DLL1-related disorder 2019-04-09 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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