Submissions for variant NM_001348716.2(KDM6B):c.1925C>T (p.Pro642Leu)

gnomAD frequency: 0.00216  dbSNP: rs201403136

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000883999	SCV001027349	likely benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000883999	SCV004010559	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	KDM6B: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000883999	SCV005218680	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000883999	SCV001797671	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000883999	SCV001973209	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003940481	SCV004752399	benign	KDM6B-related disorder	2019-06-24	no assertion criteria provided	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).