ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1p36.23(chr1:8850514-9094343)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 | |||
CA6 | - | - |
GRCh38 GRCh37 |
19 | 62 | |
ENO1 | - | - |
GRCh38 GRCh37 |
19 | 63 | |
ENO1-AS1 | - | - | - |
GRCh38 GRCh37 |
- | 44 |
RERE | - | - |
GRCh38 GRCh37 |
712 | 763 | |
SLC2A7 | - | - |
GRCh38 GRCh37 |
54 | 97 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 11, 2017 | RCV000848258.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022