ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q21.33(chr13:70005620-71038635)x3
Germline
Classification
(1)
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 | |||
ATXN8OS | - | - |
GRCh38 GRCh37 |
10 | 107 | |
KLHL1 | - | - |
GRCh38 GRCh37 |
40 | 131 | |
LINC00348 | - | - | - | GRCh38 | - | 31 |
LOC109461478 | - | - | - | GRCh38 | - | 38 |
LOC110120827 | - | - | - | GRCh38 | - | 32 |
LOC110120891 | - | - | - | GRCh38 | - | 32 |
LOC110120946 | - | - | - | GRCh38 | - | 31 |
LOC130009870 | - | - | - | GRCh38 | - | 31 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Jul 18, 2014 | RCV000142082.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024