Submissions for variant NM_000085.5(CLCNKB):c.492G>C (p.Gly164=)

gnomAD frequency: 0.88578  dbSNP: rs2014562

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000710104	SCV000612837	benign	not provided	2017-08-02	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000516446	SCV000711920	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Gly164Gly in exon 5 of CLCNKB: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 99.97% (8645/8648) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac .broadinstitute.org; dbSNP rs2014562).
Genome-Nilou Lab	RCV001578903	SCV001806261	benign	Bartter disease type 4B	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001578904	SCV001806262	benign	Bartter disease type 3	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000710104	SCV001849901	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710104	SCV002464361	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710104	SCV005283151	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000516446	SCV001743684	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000516446	SCV001951173	benign	not specified		no assertion criteria provided	clinical testing