ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q22(chr17:55840956-56090386)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
CUEDC1 | - | - | - |
GRCh38 GRCh37 |
- | 16 |
MRPS23 | - | - |
GRCh38 GRCh37 |
55 | 72 | |
SRSF1 | - | - |
GRCh38 GRCh37 |
11 | 34 | |
VEZF1 | - | - |
GRCh38 GRCh37 |
28 | 45 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 11, 2021 | RCV001795838.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023