ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1335+1_1335+6del

dbSNP: rs759801838
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000578467 SCV000680374 likely pathogenic Familial hypokalemia-hypomagnesemia 2017-09-08 criteria provided, single submitter clinical testing

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