ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.56G>A (p.Arg19His)

gnomAD frequency: 0.00001  dbSNP: rs776593495
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001663812 SCV001879517 uncertain significance not provided 2020-12-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832848 SCV002089318 uncertain significance Familial hypokalemia-hypomagnesemia 2020-02-19 no assertion criteria provided clinical testing

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