Submissions for variant NM_019074.4(DLL4):c.672G>A (p.Ser224=)

gnomAD frequency: 0.00125  dbSNP: rs61757617

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000885077	SCV001028503	benign	not provided	2024-01-04	criteria provided, single submitter	clinical testing
GeneDx	RCV000885077	SCV001836963	benign	not provided	2021-03-08	criteria provided, single submitter	clinical testing	In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen	RCV000885077	SCV004136359	benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	DLL4: BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003910462	SCV004727405	likely benign	DLL4-related disorder	2022-08-14	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).