ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q31.1(chr7:110322161-112423237)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 | |||
IMMP2L | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
32 | 118 | |
DOCK4 | - | - |
GRCh38 GRCh37 |
132 | 197 | |
IFRD1 | - | - |
GRCh38 GRCh37 |
47 | 80 | |
LRRN3 | - | - |
GRCh38 GRCh37 |
- | 68 | |
LSMEM1 | - | - | - |
GRCh38 GRCh37 |
7 | 39 |
TMEM168 | - | - | - |
GRCh38 GRCh37 |
40 | 69 |
ZNF277 | - | - |
GRCh38 GRCh37 |
18 | 71 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 26, 2015 | RCV000510770.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024