ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q37.3(chr2:241402844-241572457)x3
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 | |||
ANKMY1 | - | - | - |
GRCh38 GRCh37 |
83 | 204 |
CAPN10 | - | - |
GRCh38 GRCh37 |
91 | 199 | |
DUSP28 | - | - | - |
GRCh38 GRCh37 |
- | 130 |
GPC1 | - | - |
GRCh38 GRCh37 |
53 | 156 | |
GPR35 | - | - |
GRCh38 GRCh37 |
31 | 155 | |
RNPEPL1 | - | - |
GRCh38 GRCh37 |
39 | 148 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 28, 2021 | RCV002474734.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022