ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1444-2_1462dup

dbSNP: rs1325615258
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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 RCV002245167 SCV002513833 likely pathogenic Familial hypokalemia-hypomagnesemia 2022-04-27 criteria provided, single submitter clinical testing ACMG criteria used:PM1 PM2 PM4

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