Submissions for variant NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4])

dbSNP: rs762459325

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194925	SCV000246948	likely benign	not specified	2015-07-24	criteria provided, single submitter	clinical testing
Invitae	RCV000228147	SCV000288511	benign	Acute myeloid leukemia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001579326	SCV001836982	benign	not provided	2020-11-23	criteria provided, single submitter	clinical testing	In-frame insertion of 2 amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 23926458, 29365323, 18729193, 25987038, 17190859, 29410295, 24054719, 20970189, 29668487, 29727824, 21403128, 28637622, 17557966, 15746035, 17851556, 14726504, 22389883, 18946494, 27602952, 29180507, 24056881, 25468431)
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV001579326	SCV002010560	benign	not provided	2021-11-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV002256102	SCV002531761	benign	Hereditary cancer-predisposing syndrome	2020-06-10	criteria provided, single submitter	curation
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001579326	SCV004562756	benign	not provided	2023-04-17	criteria provided, single submitter	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000194925	SCV001798648	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV001579326	SCV001806808	likely benign	not provided		no assertion criteria provided	clinical testing