ClinVar Genomic variation as it relates to human health
NM_174934.4(SCN4B):c.282G>A (p.Thr94=)
Germline
Classification
(3)
Benign/Likely benign
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 | |||
LOC126861356 | - | - | - | GRCh38 | - | 67 |
SCN4B | - | - |
GRCh38 GRCh37 |
240 | 344 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Feb 10, 2021 | RCV002435099.1 | |
Benign (1) |
|
Aug 25, 2022 | RCV003102767.2 | |
Benign (1) |
|
Nov 6, 2023 | RCV003479428.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 20, 2024