ClinVar Miner

Submissions for variant NM_000085.5(CLCNKB):c.101-50G>C

gnomAD frequency: 0.53214  dbSNP: rs6604910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579092 SCV001806495 benign Bartter disease type 4B 2021-07-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001579093 SCV001806496 benign Bartter disease type 3 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001685541 SCV001899963 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685541 SCV005283143 benign not provided criteria provided, single submitter not provided

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