ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q21.13(chr8:82540245-82662642)x1
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
IMPA1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
26 | 69 | |
CHMP4C | - | - |
GRCh38 GRCh37 |
14 | 58 | |
SLC10A5 | - | - |
GRCh38 GRCh37 |
32 | 75 | |
ZFAND1 | - | - | - |
GRCh38 GRCh37 |
14 | 57 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986738.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024