ClinVar Miner

Submissions for variant NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714828 SCV000845565 uncertain significance Bartter syndrome type 3 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714829 SCV000845566 uncertain significance Bartter syndrome, type 4b 2018-08-07 criteria provided, single submitter clinical testing

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