ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.760G>A (p.Val254Met)

gnomAD frequency: 0.00002  dbSNP: rs751725614
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993008 SCV001145681 uncertain significance not provided 2019-08-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001274376 SCV002779336 uncertain significance Familial hypokalemia-hypomagnesemia 2022-04-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274376 SCV001458487 uncertain significance Familial hypokalemia-hypomagnesemia 2020-09-16 no assertion criteria provided clinical testing

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