ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1180G>A (p.Gly394Ser)

dbSNP: rs2055190908
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280859 SCV001468204 likely pathogenic Familial hypokalemia-hypomagnesemia 2020-01-14 no assertion criteria provided clinical testing

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