ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4895G>T (p.Arg1632Met)

dbSNP: rs796053158
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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 RCV001258349 SCV001435315 likely pathogenic Developmental and epileptic encephalopathy, 11 2020-08-25 criteria provided, single submitter clinical testing

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