ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.322C>T (p.Arg108Trp)

dbSNP: rs541789117
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV002477919 SCV002774997 uncertain significance not provided 2022-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001733791 SCV002791597 uncertain significance Familial hypokalemia-hypomagnesemia 2021-12-17 criteria provided, single submitter clinical testing
GeneDx RCV002477919 SCV003919329 uncertain significance not provided 2022-10-20 criteria provided, single submitter clinical testing Reported with additional variants (phase unknown) in a patient with Gitelman syndrome in published literature (Vargas-Poussou et al., 2011); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 34426522, 21415153)
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001733791 SCV001984721 uncertain significance Familial hypokalemia-hypomagnesemia 2020-04-28 flagged submission clinical testing

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