ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1687C>T (p.Gln563Ter)

dbSNP: rs2144723125
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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 RCV002245161 SCV002513809 pathogenic Familial hypokalemia-hypomagnesemia 2022-04-27 criteria provided, single submitter clinical testing ACMG criteria used:PVS1, PM2, PM3, PM4, PP1

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