ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p11.1-q11.21(chr8:43312712-48892709)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 | |||
CEBPD | - | - |
GRCh38 GRCh37 |
27 | 65 | |
LINC00293 | - | - |
GRCh38 GRCh37 |
3 | 42 | |
MCM4 | - | - |
GRCh38 GRCh37 |
546 | 621 | |
PRKDC | - | - |
GRCh38 GRCh37 |
4046 | 4267 | |
SPIDR | - | - |
GRCh38 GRCh37 |
80 | 134 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 3, 2022 | RCV003484733.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024