ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2037+87A>G

dbSNP: rs1456555803
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
European Hospital Georges Pompidou Genetics Department, Assistance Publique - Hôpitaux de Paris AP-HP RCV002245169 SCV002513839 likely pathogenic Familial hypokalemia-hypomagnesemia 2022-04-27 criteria provided, single submitter clinical testing ACMG criteria used:PS3 PM2 PP3
Fulgent Genetics, Fulgent Genetics RCV002245169 SCV005641431 likely pathogenic Familial hypokalemia-hypomagnesemia 2024-04-10 criteria provided, single submitter clinical testing

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