ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2q36.3(chr2:228355418-229592972)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 | |||
AGFG1 | - | - |
GRCh38 GRCh37 |
22 | 49 | |
C2orf83 | - | - | - |
GRCh38 GRCh37 |
- | 26 |
CCL20 | - | - |
GRCh38 GRCh37 |
4 | 28 | |
DAW1 | - | - |
GRCh38 GRCh37 |
31 | 56 | |
SLC19A3 | - | - |
GRCh38 GRCh37 |
653 | 678 | |
SPHKAP | - | - |
GRCh38 GRCh37 |
113 | 141 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 18, 2023 | RCV003484093.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024