ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1015A>C (p.Thr339Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MVZ Medizinische Genetik Mainz RCV004598329 SCV005091115 uncertain significance Familial hypokalemia-hypomagnesemia 2024-06-18 criteria provided, single submitter clinical testing ACMG Criteria: PM3,PM5,PM2_SUP,PP4,BP4

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