ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p21.1(chr8:27597532-27692879)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 | |||
CCDC25 | - | - |
GRCh38 GRCh37 |
11 | 93 | |
ESCO2 | - | - |
GRCh38 GRCh37 |
634 | 725 | |
PBK | - | - |
GRCh38 GRCh37 |
12 | 99 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 1, 2023 | RCV003483023.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024