ClinVar Genomic variation as it relates to human health
GRCh37/hg19 19q13.12(chr19:36570287-36655341)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 | |||
CAPNS1 | - | - |
GRCh38 GRCh37 |
20 | 38 | |
COX7A1 | - | - |
GRCh38 GRCh37 |
7 | 25 | |
OVOL3 | - | - |
GRCh38 GRCh37 |
- | 17 | |
POLR2I | - | - |
GRCh38 GRCh37 |
4 | 21 | |
TBCB | - | - |
GRCh38 GRCh37 |
20 | 39 | |
WDR62 | - | - |
GRCh38 GRCh37 |
941 | 958 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 17, 2017 | RCV000846132.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022