ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2634-127T>C

gnomAD frequency: 0.96546  dbSNP: rs9922270
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001543015 SCV001761477 benign Familial hypokalemia-hypomagnesemia 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001709730 SCV001937370 benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709730 SCV005292638 benign not provided criteria provided, single submitter not provided

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