ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2924+825C>T

gnomAD frequency: 0.00002  dbSNP: rs1403329930
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Total submissions: 1
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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 RCV002245184 SCV002513862 uncertain significance Familial hypokalemia-hypomagnesemia 2022-04-27 criteria provided, single submitter clinical testing ACMG criteria used:PM2

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