Submissions for variant NM_000085.5(CLCNKB):c.1685T>C (p.Met562Thr)

gnomAD frequency: 0.88476  dbSNP: rs5253

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000516781	SCV000612826	benign	not specified	2017-07-26	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000516781	SCV000711942	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Met562Thr in exon 16 of CLCNKB: This variant is not expected to have clinical significance because it has been identified in 98.02% (65150/66466) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs5253).
Genome-Nilou Lab	RCV001579038	SCV001806429	benign	Bartter disease type 4B	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001579039	SCV001806430	benign	Bartter disease type 3	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV001683550	SCV001900005	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001683550	SCV002354241	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001683550	SCV005283210	benign	not provided		criteria provided, single submitter	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000516781	SCV001744086	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000516781	SCV001956400	benign	not specified		no assertion criteria provided	clinical testing