ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_88625195)_(90796047_?)inv
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 | |||
MEF2C | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
457 | 566 | |
ADGRV1 | - | - |
GRCh38 GRCh37 |
6311 | 6367 | |
ARRDC3 | - | - |
GRCh38 GRCh37 |
17 | 45 | |
CETN3 | - | - |
GRCh38 GRCh37 |
8 | 37 | |
LUCAT1 | - | - |
GRCh38 GRCh37 |
- | 26 | |
LYSMD3 | - | - | - |
GRCh38 GRCh37 |
24 | 53 |
MBLAC2 | - | - |
GRCh38 GRCh37 |
15 | 49 | |
POLR3G | - | - |
GRCh38 GRCh37 |
13 | 46 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV002286878.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 17, 2024