ClinVar Miner

Submissions for variant NM_001271.4(CHD2):c.1387C>T (p.Gln463Ter)

dbSNP: rs2141802487
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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 RCV001353225 SCV001548368 pathogenic Developmental and epileptic encephalopathy 94 2021-03-02 criteria provided, single submitter clinical testing

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