ClinVar Miner

Submissions for variant NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly)

gnomAD frequency: 0.59220  dbSNP: rs10927887
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000711245 SCV000841578 benign not provided 2018-05-07 criteria provided, single submitter clinical testing
Mendelics RCV000986249 SCV001135185 benign Bartter disease type 4B 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000986249 SCV001806484 benign Bartter disease type 4B 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000711245 SCV001950671 benign not provided 2018-11-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23850580, 21248228)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001805829 SCV002051170 benign not specified 2021-12-16 criteria provided, single submitter clinical testing

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