ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1911C>T (p.His637=)

gnomAD frequency: 0.00001  dbSNP: rs1168785341
Minimum review status: Collection method:
Minimum conflict level:
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 RCV001492121 SCV001696727 likely benign not provided 2023-08-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277880 SCV001464859 uncertain significance Familial hypokalemia-hypomagnesemia 2020-09-04 no assertion criteria provided clinical testing

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