Submissions for variant NM_001291415.2(KDM6A):c.2859-5del

dbSNP: rs10605935

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000348764	SCV000331600	benign	not specified	2015-10-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001514281	SCV001722084	benign	Kabuki syndrome 2	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001610770	SCV001841216	benign	not provided	2019-08-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001514281	SCV001980952	benign	Kabuki syndrome 2	2021-08-19	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000348764	SCV004233616	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 33% of patients studied by a panel of primary immunodeficiencies. Number of patients: 31. Only high quality variants are reported.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000348764	SCV001740655	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000348764	SCV001799698	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001610770	SCV001932978	likely benign	not provided		no assertion criteria provided	clinical testing