ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q21.3(chr15:57608623-59029582)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 | |||
ADAM10 | - | - |
GRCh38 GRCh37 |
74 | 99 | |
ALDH1A2 | - | - |
GRCh38 GRCh37 |
61 | 83 | |
AQP9 | - | - |
GRCh38 GRCh37 |
23 | 42 | |
CGNL1 | - | - |
GRCh38 GRCh37 |
172 | 191 | |
LIPC | - | - |
GRCh38 GRCh37 |
261 | 284 | |
MYZAP | - | - |
GRCh38 GRCh37 |
- | 54 | |
POLR2M | - | - |
GRCh38 GRCh37 |
- | 62 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 14, 2018 | RCV000683698.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023