ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2585G>C (p.Arg862Pro)

dbSNP: rs267607051
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001730038 SCV001976795 likely pathogenic Familial hypokalemia-hypomagnesemia 2021-08-10 criteria provided, single submitter clinical testing PM2, PM5, PP3, PP5

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