ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1485C>T (p.Phe495=)

gnomAD frequency: 0.00001  dbSNP: rs1297766065
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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 RCV001445833 SCV001648871 likely benign not provided 2023-12-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495628 SCV002797500 likely benign Familial hypokalemia-hypomagnesemia 2021-10-25 criteria provided, single submitter clinical testing

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