ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q31.1(chr7:110924745-111350871)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 | |||
IMMP2L | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
32 | 118 | |
LOC129389844 | - | - | - | GRCh38 | - | 9 |
LOC129389845 | - | - | - | GRCh38 | - | 11 |
LOC129999129 | - | - | - | GRCh38 | - | 9 |
LRRN3 | - | - |
GRCh38 GRCh37 |
- | 68 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 13, 2012 | RCV000137609.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024