ClinVar Genomic variation as it relates to human health
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
Germline
Classification
(2)
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
SCN8A | No evidence available | No evidence available |
GRCh38 GRCh37 |
1992 | 2087 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 1, 2022 | RCV003057861.3 | |
Likely pathogenic (1) |
|
Jun 6, 2023 | RCV003322638.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024