ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q28(chr3:191319392-191543941)x1
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 | |||
CCDC50 | - | - |
GRCh38 GRCh37 |
209 | 281 | |
LOC123464487 | - | - | - | GRCh38 | - | 23 |
LOC132088907 | - | - | - | GRCh38 | - | 22 |
LOC132090702 | - | - | - | GRCh38 | - | 22 |
PYDC2 | - | - |
GRCh38 GRCh37 |
- | 45 | |
PYDC2-AS1 | - | - | - | GRCh38 | - | 27 |
UTS2B | - | - |
GRCh38 GRCh37 |
5 | 78 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 22, 2010 | RCV000136907.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024