ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.430-3C>A

dbSNP: rs1964407153
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253423 SCV001429126 uncertain significance Familial hypokalemia-hypomagnesemia 2017-12-05 criteria provided, single submitter clinical testing

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