Submissions for variant NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=)

gnomAD frequency: 0.64121  dbSNP: rs2275167

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics	RCV000710102	SCV000612829	benign	not provided	2017-07-26	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000517156	SCV000711905	benign	not specified	2016-03-21	criteria provided, single submitter	clinical testing	p.Leu581Leu in exon 16 of CLCNKB: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 78.99% (6785/8590) of East Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exa c.broadinstitute.org; dbSNP rs2275167).
Genome-Nilou Lab	RCV001579042	SCV001806433	benign	Bartter disease type 4B	2021-07-22	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001579043	SCV001806434	benign	Bartter disease type 3	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000710102	SCV001889506	benign	not provided	2018-11-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710102	SCV002418742	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000710102	SCV005283213	benign	not provided		criteria provided, single submitter	not provided