ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q11.1-11.21(chr8:46912309-50818801)
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 | |||
CEBPD | - | - |
GRCh38 GRCh37 |
27 | 65 | |
CLXN | - | - |
GRCh38 GRCh37 |
10 | 37 | |
LINC00293 | - | - |
GRCh38 GRCh37 |
3 | 42 | |
MCM4 | - | - |
GRCh38 GRCh37 |
546 | 621 | |
PPDPFL | - | - | - |
GRCh38 GRCh37 |
1 | 27 |
PRKDC | - | - |
GRCh38 GRCh37 |
4046 | 4267 | |
SNAI2 | - | - |
GRCh38 GRCh37 |
87 | 114 | |
SPIDR | - | - |
GRCh38 GRCh37 |
80 | 134 | |
UBE2V2 | - | - |
GRCh38 GRCh37 |
2 | 33 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 1, 2022 | RCV002053761.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022