ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1453G>A (p.Glu485Lys)

gnomAD frequency: 0.00011  dbSNP: rs201804135
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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 RCV001453861 SCV001657569 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836409 SCV002089351 likely benign Familial hypokalemia-hypomagnesemia 2021-07-16 no assertion criteria provided clinical testing

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