ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.43_44del (p.Leu15fs)

dbSNP: rs2144677696
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001824227 SCV002073844 likely pathogenic Familial hypokalemia-hypomagnesemia criteria provided, single submitter clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001824227 SCV004805377 likely pathogenic Familial hypokalemia-hypomagnesemia 2024-03-25 criteria provided, single submitter research

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