ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.741+9G>A

gnomAD frequency: 0.00001  dbSNP: rs761526794
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000975767 SCV001123658 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505485 SCV002813709 likely benign Familial hypokalemia-hypomagnesemia 2022-05-03 criteria provided, single submitter clinical testing

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