ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_113817016)_(113890448_?)del
Germline
Classification
(2)
Pathogenic
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 | |||
IL1F10 | - | - |
GRCh38 GRCh37 |
10 | 33 | |
IL1RN | - | - |
GRCh38 GRCh37 |
223 | 246 | |
IL36RN | - | - |
GRCh38 GRCh37 |
190 | 213 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 24, 2022 | RCV001963059.4 | |
Pathogenic (1) |
|
Oct 24, 2022 | RCV003120785.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023