ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2856+143A>G

gnomAD frequency: 0.17855  dbSNP: rs16963520
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543031 SCV001761512 benign Familial hypokalemia-hypomagnesemia 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001615262 SCV001838924 benign not provided 2019-08-06 criteria provided, single submitter clinical testing

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