Submissions for variant NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup)

dbSNP: rs375513122

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003891942	SCV000311915	benign	KAT6B-related condition	2020-07-01	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).
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000443242	SCV000510901	likely benign	not provided	2016-09-01	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV001081925	SCV000763353	benign	Genitopatellar syndrome	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000443242	SCV001870077	benign	not provided	2019-11-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002518640	SCV003536001	benign	Inborn genetic diseases	2022-09-15	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000249396	SCV001742251	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000443242	SCV001927227	likely benign	not provided		no assertion criteria provided	clinical testing