ClinVar Miner

Submissions for variant NM_000338.3(SLC12A1):c.724+547C>T

gnomAD frequency: 0.00019  dbSNP: rs377680472
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000626161 SCV000746796 uncertain significance Bartter disease type 1 2020-05-03 criteria provided, single submitter clinical testing

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