ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p25.1-24.3(chr6:6854908-7465142)x3
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 | |||
CAGE1 | - | - |
GRCh38 GRCh37 |
44 | 90 | |
RIOK1 | - | - |
GRCh38 GRCh37 |
40 | 77 | |
RREB1 | - | - |
GRCh38 GRCh37 |
325 | 372 | |
SSR1 | - | - |
GRCh38 GRCh37 |
7 | 52 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
- | RCV002287574.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2022