ClinVar Genomic variation as it relates to human health
NC_000007.14:g.107563973C>T
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
COG5 | - | - |
GRCh38 GRCh38 GRCh37 |
776 | 904 | |
DUS4L | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 70 |
DUS4L-BCAP29 | - | - | - |
GRCh38 GRCh38 |
- | 49 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 3, 2022 | RCV002795285.10 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 20, 2024