ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2038-6C>T

gnomAD frequency: 0.00001  dbSNP: rs1287454816
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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 RCV001442289 SCV001645238 likely benign not provided 2021-05-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495619 SCV002800491 likely benign Familial hypokalemia-hypomagnesemia 2021-12-01 criteria provided, single submitter clinical testing

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