ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q21.33(chr12:90910083-91560392)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 | |||
CCER1 | - | - | - |
GRCh38 GRCh37 |
15 | 32 |
DCN | - | - |
GRCh38 GRCh37 |
67 | 81 | |
EPYC | - | - |
GRCh38 GRCh37 |
35 | 50 | |
KERA | - | - |
GRCh38 GRCh37 |
48 | 62 | |
LUM | - | - |
GRCh38 GRCh37 |
20 | 34 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240332.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022