ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p13.2(chr16:8884484-8992578)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 | |
PMM2 | - | - |
GRCh38 GRCh37 |
779 | 878 | |
TMEM186 | - | - | - |
GRCh38 GRCh37 |
26 | 116 |
USP7 | - | - |
GRCh38 GRCh37 |
369 | 463 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 18, 2017 | RCV000845949.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022