ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1002G>A (p.Arg334=)

gnomAD frequency: 0.00098  dbSNP: rs146318329
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000901195 SCV001045554 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274424 SCV001458555 uncertain significance Familial hypokalemia-hypomagnesemia 2020-01-17 no assertion criteria provided clinical testing

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