ClinVar Genomic variation as it relates to human health
NM_001379500.1(COL18A1):c.3697G>A (p.Glu1233Lys)
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 | |||
COL18A1 | - | - |
GRCh38 GRCh38 GRCh37 |
1834 | 3012 | |
SLC19A1 | - | - |
GRCh38 GRCh38 GRCh37 |
156 | 1234 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 19, 2022 | RCV002785227.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 29, 2024