ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p11.2(chr7:57130102-57649953)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 | |||
LOC105375297 | - | - | - | GRCh38 | - | 15 |
LOC132089552 | - | - | - | GRCh38 | - | 17 |
MIR3147 | - | - | - | GRCh38 | - | 17 |
MIR3147HG | - | - | - | GRCh38 | - | 17 |
ZNF479 | - | - |
GRCh38 GRCh37 |
32 | 49 | |
ZNF716 | - | - | - |
GRCh38 GRCh37 |
51 | 77 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 26, 2013 | RCV000140030.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024