ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p21.3(chr8:22381361-23226751)x3
Germline
Classification
(1)
Likely benign
no assertion criteria provided
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 | |||
CHMP7 | No evidence available | No evidence available |
GRCh38 GRCh37 |
15 | 102 | |
BIN3 | - | - |
GRCh38 GRCh37 |
23 | 116 | |
C8orf58 | - | - | - |
GRCh38 GRCh37 |
8 | 94 |
CCAR2 | - | - |
GRCh38 GRCh37 |
88 | 179 | |
EGR3 | - | - |
GRCh38 GRCh37 |
16 | 104 | |
LOXL2 | - | - |
GRCh38 GRCh37 |
51 | 150 | |
PDLIM2 | - | - |
GRCh38 GRCh37 |
59 | 149 | |
PEBP4 | - | - |
GRCh38 GRCh37 |
21 | 109 | |
PPP3CC | - | - |
GRCh38 GRCh37 |
27 | 122 | |
R3HCC1 | - | - | - |
GRCh38 GRCh37 |
19 | 104 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Sep 9, 2015 | RCV000510870.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024