ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys)

gnomAD frequency: 0.00003  dbSNP: rs774753302
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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 RCV002245162 SCV002513812 likely pathogenic Familial hypokalemia-hypomagnesemia 2022-04-27 criteria provided, single submitter clinical testing ACMG criteria used:PM1, PM2, PP3, PP5, PM3
Fulgent Genetics, Fulgent Genetics RCV002245162 SCV005639138 uncertain significance Familial hypokalemia-hypomagnesemia 2024-06-13 criteria provided, single submitter clinical testing

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