Submissions for variant NM_004364.5(CEBPA):c.402G>A (p.Ala134=)

gnomAD frequency: 0.00295  dbSNP: rs752254340

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000228805	SCV000288508	benign	Acute myeloid leukemia	2024-01-30	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000499387	SCV000593990	benign	not specified	2018-12-31	criteria provided, single submitter	clinical testing
GeneDx	RCV001529423	SCV001772479	likely benign	not provided	2020-12-22	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 25468431)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001529423	SCV002009844	uncertain significance	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256166	SCV002531748	benign	Hereditary cancer-predisposing syndrome	2020-11-20	criteria provided, single submitter	curation
PreventionGenetics, part of Exact Sciences	RCV003937905	SCV004747823	likely benign	CEBPA-related disorder	2020-12-15	criteria provided, single submitter	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).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529423	SCV001742862	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001529423	SCV001808161	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529423	SCV001972976	likely benign	not provided		no assertion criteria provided	clinical testing