ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2037+10C>T

gnomAD frequency: 0.00001  dbSNP: rs774757777
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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 RCV001504264 SCV001709138 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501731 SCV002805798 likely benign Familial hypokalemia-hypomagnesemia 2021-12-15 criteria provided, single submitter clinical testing

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