Submissions for variant NM_001291415.2(KDM6A):c.3267G>A (p.Gln1089=)

gnomAD frequency: 0.16047  dbSNP: rs20539

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146125	SCV000193343	benign	not specified	2013-08-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000146125	SCV000202894	benign	not specified	2016-03-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000146125	SCV000313749	benign	not specified		criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514282	SCV001722085	benign	Kabuki syndrome 2	2025-02-04	criteria provided, single submitter	clinical testing
GeneDx	RCV001682847	SCV001903127	benign	not provided	2018-07-27	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001514282	SCV001980953	benign	Kabuki syndrome 2	2021-08-19	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000146125	SCV004233429	benign	not specified	2024-01-24	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 45% of patients studied by a panel of primary immunodeficiencies. Number of patients: 43. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV001682847	SCV005277628	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000146125	SCV001740598	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000146125	SCV001956160	benign	not specified		no assertion criteria provided	clinical testing