ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q23.3-24.11(chr8:116497730-117379167)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 | |||
RAD21 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
355 | 416 | |
AARD | - | - | - |
GRCh38 GRCh37 |
4 | 61 |
EIF3H | - | - |
GRCh38 GRCh37 |
12 | 73 | |
LOC105375713 | - | - | - | GRCh38 | - | 24 |
LOC121331310 | - | - | - | GRCh38 | - | 24 |
LOC130000986 | - | - | - | GRCh38 | - | 24 |
LOC130000987 | - | - | - | GRCh38 | - | 24 |
LOC130000988 | - | - | - | GRCh38 | - | 24 |
LOC130000989 | - | - | - | GRCh38 | - | 24 |
LOC130000990 | - | - | - | GRCh38 | - | 24 |
There are 11 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 14, 2011 | RCV000142553.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024