ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.744G>A (p.Glu248=)

gnomAD frequency: 0.00003  dbSNP: rs753403903
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000976216 SCV001124115 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505486 SCV002813694 likely benign Familial hypokalemia-hypomagnesemia 2022-05-12 criteria provided, single submitter clinical testing

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