ClinVar Genomic variation as it relates to human health
NC_000020.11:g.(?_14490624)_(14573076_?)del
Germline
Classification
(1)
Likely pathogenic
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 | |||
LOC132090561 | - | - | - | GRCh38 | - | 13 |
MACROD2 | - | - |
GRCh38 GRCh38 GRCh37 |
58 | 196 | |
MACROD2-IT1 | - | - | - | GRCh38 | - | 15 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 20, 2018 | RCV000754213.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024