ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q11.23(chr7:76784372-77199666)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 | |||
CCDC146 | - | - |
GRCh38 GRCh37 |
61 | 94 | |
FGL2 | - | - |
GRCh38 GRCh37 |
- | 31 | |
GSAP | - | - |
GRCh38 GRCh37 |
52 | 74 | |
PTPN12 | - | - |
GRCh38 GRCh37 |
44 | 66 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 9, 2019 | RCV001005972.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022