ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.634G>C (p.Gly212Arg)

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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 RCV004555407 SCV005044380 uncertain significance Familial hypokalemia-hypomagnesemia 2022-05-20 criteria provided, single submitter clinical testing ACMG Criteria: PM5, PM2_SUP, PP3, PP4 (ACMG Version 3)

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