ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1314C>T (p.Tyr438=)

gnomAD frequency: 0.00005  dbSNP: rs776210036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000326577 SCV000398112 uncertain significance Familial hypokalemia-hypomagnesemia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001405196 SCV001607114 likely benign not provided 2024-03-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000326577 SCV002055293 likely benign Familial hypokalemia-hypomagnesemia 2021-07-15 criteria provided, single submitter clinical testing

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