ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p15.3(chr7:23423194-23635828)x1
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 | |||
CCDC126 | - | - | - |
GRCh38 GRCh37 |
12 | 45 |
IGF2BP3 | - | - |
GRCh38 GRCh37 |
25 | 58 | |
LOC129998074 | - | - | - | GRCh38 | - | 14 |
LOC129998075 | - | - | - | GRCh38 | - | 14 |
LOC129998076 | - | - | - | GRCh38 | - | 14 |
LOC129998077 | - | - | - | GRCh38 | - | 14 |
LOC129998078 | - | - | - | GRCh38 | - | 14 |
LOC129998079 | - | - | - | GRCh38 | - | 14 |
LOC129998080 | - | - | - | GRCh38 | - | 14 |
LOC129998081 | - | - | - | GRCh38 | - | 14 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Sep 27, 2013 | RCV000140652.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024