ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q24.22(chr8:132005210-133698781)x3
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 | |||
ADCY8 | - | - |
GRCh38 GRCh37 |
58 | 123 | |
DNAAF11 | - | - |
GRCh38 GRCh37 |
246 | 308 | |
EFR3A | - | - |
GRCh38 GRCh37 |
73 | 140 | |
HHLA1 | - | - |
GRCh38 GRCh37 |
36 | 102 | |
KCNQ3 | - | - |
GRCh38 GRCh37 |
1304 | 1375 | |
OC90 | - | - |
GRCh38 GRCh37 |
26 | 100 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jun 19, 2017 | RCV000515570.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022