ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1465T>C (p.Tyr489His)

dbSNP: rs2144714194
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001805746 SCV002053744 likely pathogenic Familial hypokalemia-hypomagnesemia criteria provided, single submitter clinical testing

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