ClinVar Genomic variation as it relates to human health
NM_004700.4(KCNQ4):c.818C>G (p.Ser273Trp)
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
KCNQ4 | - | - |
GRCh38 GRCh37 |
369 | 389 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
KCNQ4-related disorder
|
Uncertain significance (1) |
|
Feb 22, 2024 | RCV003983360.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 23, 2024