ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p22.1-21.3(chr7:6870884-8177933)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
C1GALT1 | - | - |
GRCh38 GRCh37 |
28 | 70 | |
COL28A1 | - | - |
GRCh38 GRCh37 |
86 | 128 | |
GLCCI1 | - | - |
GRCh38 GRCh37 |
32 | 89 | |
ICA1 | - | - |
GRCh38 GRCh37 |
43 | 84 | |
MIOS | - | - |
GRCh38 GRCh37 |
45 | 83 | |
RPA3 | - | - |
GRCh38 GRCh37 |
7 | 47 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
- | RCV000449433.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024