ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1797C>T (p.Leu599=)

gnomAD frequency: 0.00006  dbSNP: rs777125875
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 RCV000921150 SCV001066544 likely benign not provided 2023-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274426 SCV001458562 uncertain significance Familial hypokalemia-hypomagnesemia 2020-01-24 no assertion criteria provided clinical testing

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