Submissions for variant NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln)

gnomAD frequency: 0.01603  dbSNP: rs111656822

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202972	SCV000257953	benign	not specified	2015-05-05	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001518561	SCV001727280	benign	not provided	2025-01-27	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001518561	SCV002544848	benign	not provided	2025-03-01	criteria provided, single submitter	clinical testing	CLCN2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV001518561	SCV005304585	benign	not provided		criteria provided, single submitter	not provided
GeneReviews	RCV000201839	SCV000256570	not provided	Leukoencephalopathy with mild cerebellar ataxia and white matter edema		no assertion provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000613314	SCV000734258	benign	Epilepsy, idiopathic generalized, susceptibility to, 11		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001518561	SCV001930225	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001518561	SCV002035461	likely benign	not provided		no assertion criteria provided	clinical testing