ClinVar Genomic variation as it relates to human health
NC_000020.11:g.3863511_3918336del
Germline
Classification
(1)
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 | |||
MAVS | - | - |
GRCh38 GRCh37 |
42 | 90 | |
MIR103A2 | - | - |
GRCh38 GRCh37 |
- | 49 | |
PANK2 | - | - |
GRCh38 GRCh37 |
481 | 748 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV001250201.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 06, 2024