ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.505+5G>A

dbSNP: rs751112698
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001542490 SCV002809758 likely pathogenic Familial hypokalemia-hypomagnesemia 2022-02-01 criteria provided, single submitter clinical testing
Genomics England Pilot Project, Genomics England RCV001542490 SCV001760375 pathogenic Familial hypokalemia-hypomagnesemia no assertion criteria provided clinical testing

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