Submissions for variant NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del)

dbSNP: rs71929101

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000192498	SCV000247641	likely benign	not specified	2015-07-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000192498	SCV000311908	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000536630	SCV000641208	benign	Genitopatellar syndrome	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001651058	SCV000730959	benign	not provided	2018-06-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001651058	SCV001158866	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000192498	SCV001365801	benign	not specified	2019-08-14	criteria provided, single submitter	clinical testing	p.Glu1104del in exon 16 of KAT6B: This variant is is not expected to have clinical significance because it has been identified in 24% (65722/269038) of total chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs12240773). ACMG/AMP Criteria applied: BA1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000192498	SCV001744752	benign	not specified		no assertion criteria provided	clinical testing
GeneDx	RCV001651058	SCV001862819	benign	not provided	2016-09-28	flagged submission	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000192498	SCV001963961	benign	not specified		no assertion criteria provided	clinical testing