ClinVar Miner

Submissions for variant NM_152296.5(ATP1A3):c.2686T>C (p.Trp896Arg)

dbSNP: rs2145945797
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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 RCV002086731 SCV002320723 likely pathogenic Developmental and epileptic encephalopathy 99 2022-02-24 criteria provided, single submitter clinical testing

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