ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q21(chr6:108325097-108908760)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 | |||
AFG1L | - | - |
GRCh38 GRCh37 |
34 | 61 | |
FOXO3 | - | - |
GRCh38 GRCh37 |
49 | 74 | |
NR2E1 | - | - |
GRCh38 GRCh37 |
18 | 43 | |
OSTM1 | - | - |
GRCh38 GRCh37 |
291 | 371 | |
SNX3 | - | - |
GRCh38 GRCh37 |
5 | 31 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 10, 2018 | RCV000682706.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022