ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6q13(chr6:71571478-72048250)x3
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 | |||
B3GAT2 | - | - |
GRCh38 GRCh37 |
20 | 54 | |
OGFRL1 | - | - | - |
GRCh38 GRCh37 |
18 | 37 |
SMAP1 | - | - |
GRCh38 GRCh37 |
12 | 49 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 15, 2018 | RCV000682680.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022