Submissions for variant NM_004366.6(CLCN2):c.218G>A (p.Arg73His)

gnomAD frequency: 0.00205  dbSNP: rs144412275

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000727623	SCV000854890	likely benign	not specified	2017-07-13	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000951543	SCV001097949	likely benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
Mendelics	RCV000201813	SCV001136654	uncertain significance	Leukoencephalopathy with mild cerebellar ataxia and white matter edema	2019-05-28	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000951543	SCV002062529	likely benign	not provided	2024-04-01	criteria provided, single submitter	clinical testing	CLCN2: BP4, BS2
GeneReviews	RCV000201813	SCV000256560	not provided	Leukoencephalopathy with mild cerebellar ataxia and white matter edema		no assertion provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004553099	SCV004784136	benign	CLCN2-related disorder	2021-02-11	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).