ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2857-17G>A

gnomAD frequency: 0.13711  dbSNP: rs2289116
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242696 SCV000303710 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001523530 SCV001733247 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001523530 SCV001751228 benign not provided 2019-08-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28008009, 14578305)
Genome-Nilou Lab RCV001543032 SCV001761513 benign Familial hypokalemia-hypomagnesemia 2021-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001523530 SCV005292648 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000242696 SCV001932932 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000242696 SCV001955019 benign not specified no assertion criteria provided clinical testing

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