ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2262G>A (p.Val754=)

gnomAD frequency: 0.00001  dbSNP: rs745611719
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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 RCV001424378 SCV001626975 likely benign not provided 2022-04-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499915 SCV002807711 likely benign Familial hypokalemia-hypomagnesemia 2021-11-20 criteria provided, single submitter clinical testing

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