ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.719A>G (p.Glu240Gly)

dbSNP: rs2144689801
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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 RCV001801303 SCV002047512 likely pathogenic Familial hypokalemia-hypomagnesemia 2021-09-15 criteria provided, single submitter clinical testing

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