ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2925-1G>A

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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 RCV004555441 SCV005044416 likely pathogenic Familial hypokalemia-hypomagnesemia 2023-10-26 criteria provided, single submitter clinical testing ACMG Criteria: PVS1_STR,PM3,PM2_SUP,PP4; Compound Heterozygote

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