ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.773C>T (p.Thr258Ile)

dbSNP: rs1555218630
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of British Columbia, BC Children's Hospital RCV003325434 SCV004031482 likely pathogenic Developmental and epileptic encephalopathy, 13 2023-08-30 criteria provided, single submitter research
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals RCV000677400 SCV000803702 likely pathogenic SCN8A-related epileptic disorder 2018-01-29 no assertion criteria provided clinical testing

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