ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.426del (p.Val142_Met143insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003134015 SCV003814046 likely pathogenic Familial hypokalemia-hypomagnesemia 2022-01-10 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697268 SCV005198247 likely pathogenic not provided 2024-01-15 criteria provided, single submitter clinical testing

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