ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8q13.3(chr8:70625656-70804655)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 | |||
LACTB2 | - | - |
GRCh38 GRCh37 |
3 | 57 | |
LACTB2-AS1 | - | - | - | GRCh38 | - | 30 |
LOC130000575 | - | - | - | GRCh38 | - | 16 |
LOC130000576 | - | - | - | GRCh38 | - | 16 |
LOC130000577 | - | - | - | GRCh38 | - | 16 |
XKR9 | - | - | - |
GRCh38 GRCh37 |
30 | 71 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 19, 2011 | RCV000137676.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024