Submissions for variant NM_015559.3(SETBP1):c.1491G>A (p.Pro497=)

gnomAD frequency: 0.00634  dbSNP: rs113053616

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000870685	SCV001012214	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000870685	SCV001814844	likely benign	not provided	2021-01-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV001723911	SCV002067375	benign	not specified	2017-08-21	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002487440	SCV002798728	likely benign	Schinzel-Giedion syndrome; Intellectual disability, autosomal dominant 29	2022-05-11	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000870685	SCV004010605	benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	SETBP1: BP4, BP7, BS1, BS2
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003316488	SCV004015449	likely benign	Schinzel-Giedion syndrome	2023-07-07	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003922392	SCV004740790	benign	SETBP1-related condition	2019-05-15	criteria provided, single submitter	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).
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001723911	SCV001952958	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001723911	SCV001974496	benign	not specified		no assertion criteria provided	clinical testing