ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3q12.2(chr3:100641848-100725206)x4
Germline
Classification
(1)
Benign/Likely benign
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 | |||
ADGRG7 | - | - |
GRCh38 GRCh37 |
63 | 78 | |
LOC129937149 | - | - | - | GRCh38 | - | 10 |
LOC129937150 | - | - | - | GRCh38 | - | 10 |
TFG | - | - |
GRCh38 GRCh37 |
411 | 426 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Benign/Likely benign (1) |
|
Apr 30, 2011 | RCV000134252.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023