ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1338del (p.Thr446_Met447insTer)

dbSNP: rs886041108
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000258950 SCV000328946 pathogenic Familial hypokalemia-hypomagnesemia 2016-08-16 criteria provided, single submitter clinical testing

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