ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.388A>G (p.Thr130Ala)

dbSNP: rs1555603936
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV000515675 SCV000611762 uncertain significance Andersen Tawil syndrome 2017-07-20 criteria provided, single submitter clinical testing

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