ClinVar Miner

Submissions for variant NM_004070.4(CLCNKA):c.782-36G>C

gnomAD frequency: 0.61436  dbSNP: rs10927889
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001536592 SCV001753371 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579082 SCV001806485 benign Bartter disease type 4B 2021-07-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001536592 SCV005282650 benign not provided criteria provided, single submitter not provided

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