ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.723C>T (p.Thr241=)

gnomAD frequency: 0.00069  dbSNP: rs149259406
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 RCV000972903 SCV001120633 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274419 SCV001458547 uncertain significance Familial hypokalemia-hypomagnesemia 2020-03-10 no assertion criteria provided clinical testing

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