ClinVar Miner

Submissions for variant NM_000339.2(SLC12A3):c.[1849C>T];[1919A>G]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000256196 SCV000322709 pathogenic Familial hypokalemia-hypomagnesemia 2016-09-06 criteria provided, single submitter clinical testing

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