ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.670G>C (p.Val224Leu)

dbSNP: rs2145774625
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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 RCV001353224 SCV001548367 likely pathogenic Developmental and epileptic encephalopathy, 7 2021-02-24 criteria provided, single submitter clinical testing

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