Submissions for variant NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=)

gnomAD frequency: 0.00066  dbSNP: rs574196735

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147468	SCV000194904	uncertain significance	Schinzel-Giedion syndrome	2013-02-08	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000455335	SCV000540321	likely benign	not specified	2016-03-29	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Silent, not in splice site, no coverage in ExAC, 1 report as a VUS for Schinzel-Giedion syndrome in ClinVar (Uchicago, no additional info)
GeneDx	RCV001618301	SCV001844825	benign	not provided	2019-08-22	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001618301	SCV002353975	likely benign	not provided	2025-02-02	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001618301	SCV002498374	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	SETBP1: BP4, BS1
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001618301	SCV001931084	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001618301	SCV001966490	likely benign	not provided		no assertion criteria provided	clinical testing