ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p12.1(chr20:14753765-15060833)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 | |||
LOC130065435 | - | - | - | GRCh38 | - | 29 |
LOC130065436 | - | - | - | GRCh38 | - | 29 |
LOC130065437 | - | - | - | GRCh38 | - | 24 |
LOC132090562 | - | - | - | GRCh38 | - | 20 |
MACROD2 | - | - |
GRCh38 GRCh38 GRCh37 |
49 | 174 | |
MACROD2-AS1 | - | - | - | GRCh38 | - | 25 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Nov 30, 2010 | RCV000135177.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023