Submissions for variant NM_001348716.2(KDM6B):c.625G>T (p.Val209Leu)

gnomAD frequency: 0.00454  dbSNP: rs148641957

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000210675	SCV000262904	uncertain significance	Inborn genetic diseases	2013-11-21	criteria provided, single submitter	clinical testing	There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000953369	SCV001099938	benign	not provided	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000953369	SCV002545868	likely benign	not provided	2024-06-01	criteria provided, single submitter	clinical testing	KDM6B: BP4, BS1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000953369	SCV001798282	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000953369	SCV001967768	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003967562	SCV004786739	benign	KDM6B-related disorder	2021-08-20	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).