ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10p12.31-12.2(chr10:22208767-23220277)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 | |||
ARMC3 | - | - |
GRCh38 GRCh37 |
64 | 76 | |
BMI1 | - | - |
GRCh38 GRCh37 |
- | 18 | |
COMMD3 | - | - |
GRCh38 GRCh37 |
- | 18 | |
COMMD3-BMI1 | - | - | - |
GRCh38 GRCh37 |
- | 22 |
DNAJC1 | - | - |
GRCh38 GRCh37 |
36 | 52 | |
EBLN1 | - | - |
GRCh38 GRCh37 |
30 | 44 | |
PIP4K2A | - | - |
GRCh38 GRCh37 |
27 | 40 | |
SPAG6 | - | - |
GRCh38 GRCh37 |
32 | 46 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 9, 2021 | RCV002474612.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022