ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2781G>A (p.Glu927=)

dbSNP: rs2144766852
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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 RCV001503480 SCV001708335 likely benign not provided 2020-03-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501729 SCV002807553 likely benign Familial hypokalemia-hypomagnesemia 2021-09-02 criteria provided, single submitter clinical testing

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