ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1458C>T (p.Asp486=)

gnomAD frequency: 0.00001  dbSNP: rs1215392195
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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 RCV001403411 SCV001605281 likely benign not provided 2023-04-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499857 SCV002806515 likely benign Familial hypokalemia-hypomagnesemia 2021-08-09 criteria provided, single submitter clinical testing

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