ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p23.2(chr2:28980521-29300911)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 | |||
PCARE | - | - |
GRCh38 GRCh37 |
1075 | 1104 | |
PPP1CB | - | - |
GRCh38 GRCh37 |
250 | 279 | |
SPDYA | - | - |
GRCh38 GRCh37 |
11 | 40 | |
TOGARAM2 | - | - | - |
GRCh38 GRCh37 |
105 | 133 |
TRMT61B | - | - |
GRCh38 GRCh37 |
42 | 71 | |
WDR43 | - | - |
GRCh38 GRCh37 |
33 | 61 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 25, 2017 | RCV000846893.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022