ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q23.3-24.11(chr8:115662767-117718250)
Germline
Classification
(1)
Pathogenic
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 | |||
TRPS1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
599 | 659 | |
EIF3H | - | - |
GRCh38 GRCh37 |
12 | 73 | |
LINC00536 | - | - | - |
GRCh38 GRCh37 |
- | 52 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV002280658.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 03, 2022