Submissions for variant NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met)

gnomAD frequency: 0.00079  dbSNP: rs141353229

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000319879	SCV000337014	likely benign	not specified	2015-11-17	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000515056	SCV000610473	likely benign	not provided	2017-05-01	criteria provided, single submitter	clinical testing
Invitae	RCV000613367	SCV001021347	benign	Kabuki syndrome 2	2024-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000515056	SCV001915232	benign	not provided	2019-04-09	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29084058, 32185379)
Ambry Genetics	RCV002518928	SCV003628074	benign	Inborn genetic diseases	2022-02-22	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000613367	SCV004564745	likely benign	Kabuki syndrome 2	2023-11-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003957425	SCV004771713	likely benign	KDM6A-related disorder	2020-08-10	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613367	SCV000734782	likely benign	Kabuki syndrome 2		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000515056	SCV001799854	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000319879	SCV001929441	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000515056	SCV001972519	likely benign	not provided		no assertion criteria provided	clinical testing