ClinVar Miner

Submissions for variant NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg)

dbSNP: rs755159935
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000997251 SCV001152472 likely pathogenic not provided 2018-04-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001799715 SCV002044411 likely pathogenic Developmental and epileptic encephalopathy, 62 2021-12-21 criteria provided, single submitter research

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