ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1833T>C (p.Asn611=)

gnomAD frequency: 0.00019  dbSNP: rs368198835
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 RCV000919438 SCV001064784 likely benign not provided 2023-12-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274427 SCV001458564 uncertain significance Familial hypokalemia-hypomagnesemia 2020-02-13 no assertion criteria provided clinical testing

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