ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1176C>G (p.Thr392=)

dbSNP: rs117440321
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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 RCV001467650 SCV001671677 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495690 SCV002799384 likely benign Familial hypokalemia-hypomagnesemia 2022-04-13 criteria provided, single submitter clinical testing

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