ClinVar Miner

Submissions for variant NM_001126108.2(SLC12A3):c.1406C>A (p.Ala469Asp)

dbSNP: rs139743444
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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 RCV000786873 SCV000925770 likely pathogenic Familial hypokalemia-hypomagnesemia 2018-09-24 no assertion criteria provided clinical testing

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