ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1095+4A>G

dbSNP: rs2144695925
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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 RCV002245181 SCV002513859 pathogenic Familial hypokalemia-hypomagnesemia 2022-04-27 criteria provided, single submitter clinical testing ACMG criteria used:PS3, M2, PM3, PP1, PP3, PP5

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