ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.2397C>T (p.Asp799=)

gnomAD frequency: 0.00001  dbSNP: rs139943829
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 RCV000944684 SCV001090663 likely benign not provided 2024-01-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277882 SCV001464861 likely benign Familial hypokalemia-hypomagnesemia 2020-10-05 no assertion criteria provided clinical testing

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