ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.2(chr16:8913113-9250159)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 | |||
CARHSP1 | - | - |
GRCh38 GRCh37 |
- | 99 | |
HAPSTR1 | - | - | - |
GRCh38 GRCh37 |
2 | 47 |
PMM2 | - | - |
GRCh38 GRCh37 |
772 | 871 | |
USP7 | - | - |
GRCh38 GRCh37 |
342 | 435 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 12, 2018 | RCV000845677.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022