ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.489G>C (p.Thr163=)

dbSNP: rs766590120
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002189130 SCV002481659 likely benign not provided 2023-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500418 SCV002808660 likely benign Familial hypokalemia-hypomagnesemia 2022-05-05 criteria provided, single submitter clinical testing

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