ClinVar Genomic variation as it relates to human health
NM_025114.4(CEP290):c.5824C>T (p.Gln1942Ter)
Germline
Classification
(2)
Pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
CEP290 | - | - |
GRCh38 GRCh37 |
3498 | 3662 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 20, 2023 | RCV003318184.1 | |
Pathogenic (1) |
|
Feb 11, 2023 | RCV003466054.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 30, 2023