ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q22.3(chr11:104874006-104916026)x1
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
CARD16 | - | - |
GRCh38 GRCh37 |
18 | 48 | |
CASP1 | - | - |
GRCh38 GRCh37 |
40 | 70 | |
CASP5 | - | - |
GRCh38 GRCh37 |
28 | 63 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
- | RCV000446968.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024