ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.727C>T (p.Arg243Trp)

gnomAD frequency: 0.00002  dbSNP: rs772187470
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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 RCV002245176 SCV002513853 uncertain significance Familial hypokalemia-hypomagnesemia 2022-04-27 criteria provided, single submitter clinical testing ACMG criteria used:PM1, PM2,
Fulgent Genetics, Fulgent Genetics RCV002245176 SCV002796931 uncertain significance Familial hypokalemia-hypomagnesemia 2021-07-06 criteria provided, single submitter clinical testing

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