ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.794C>T (p.Ser265Phe)

dbSNP: rs1598211406
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Total submissions: 2
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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 RCV000790449 SCV000929776 uncertain significance Andersen Tawil syndrome 2018-10-25 criteria provided, single submitter clinical testing
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000790449 SCV001435106 uncertain significance Andersen Tawil syndrome criteria provided, single submitter clinical testing

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