ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1825+1G>C

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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 RCV003992088 SCV004811976 likely pathogenic Familial hypokalemia-hypomagnesemia 2024-01-09 criteria provided, single submitter clinical testing ACMG Criteria: PVS1_STR,PS1_SUP,PM2_SUP,PM3_SUP,PP4

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