ClinVar Genomic variation as it relates to human health
NM_000634.3(CXCR1):c.938G>A (p.Arg313His)
Germline
Classification
(2)
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 | |||
CXCR1 | - | - |
GRCh38 GRCh37 |
49 | 77 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
CXCR1-related disorder
|
Likely benign (1) |
|
Jun 15, 2020 | RCV003931822.1 |
Likely benign (1) |
|
Jul 1, 2024 | RCV004598290.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 11, 2024