ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q22.1(chr8:94622851-96626603)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 | |||
CCNE2 | - | - |
GRCh38 GRCh37 |
8 | 50 | |
CDH17 | - | - |
GRCh38 GRCh37 |
50 | 91 | |
CFAP418 | - | - |
GRCh38 GRCh37 |
170 | 270 | |
CIBAR1 | - | - |
GRCh38 GRCh37 |
21 | 63 | |
DPY19L4 | - | - |
GRCh38 GRCh37 |
31 | 71 | |
ESRP1 | - | - |
GRCh38 GRCh37 |
53 | 92 | |
FSBP | - | - |
GRCh38 GRCh37 |
- | 39 | |
GEM | - | - |
GRCh38 GRCh37 |
13 | 54 | |
INTS8 | - | - |
GRCh38 GRCh37 |
63 | 104 | |
NDUFAF6 | - | - |
GRCh38 GRCh37 |
188 | 311 |
There are 7 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 2, 2022 | RCV003484744.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024