ClinVar Genomic variation as it relates to human health
GRCh37/hg19 15q13.1-13.2(chr15:28934987-30386398)x1
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 | |||
APBA2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
82 | 233 | |
ENTREP2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
44 | 369 | |
GOLGA8J | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh38 GRCh37 |
3 | 121 |
GOLGA8M | - | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
7 | 149 |
NSMCE3 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 325 | |
TJP1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
86 | 270 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 1, 2021 | RCV001836526.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023