ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1926-172G>A

gnomAD frequency: 0.10747  dbSNP: rs12444694
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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 RCV001543012 SCV001761472 benign Familial hypokalemia-hypomagnesemia 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001692471 SCV001913666 benign not provided 2019-09-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001692471 SCV005292618 benign not provided criteria provided, single submitter not provided

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