Submissions for variant NM_006079.5(CITED2):c.114CCA[1] (p.His39del)

dbSNP: rs749590293

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV001335374	SCV001528511	uncertain significance	Atrial septal defect 8	2018-04-30	criteria provided, single submitter	clinical testing	This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Mendelics	RCV001729849	SCV002518105	uncertain significance	not specified	2022-05-04	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001729848	SCV005889777	likely benign	not provided	2025-01-01	criteria provided, single submitter	clinical testing	CITED2: PM4:Supporting, BS1
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001729849	SCV001978145	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001729848	SCV001978472	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001729848	SCV001979690	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001729848	SCV001980586	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003928846	SCV004738844	likely benign	CITED2-related disorder	2022-06-23	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).