ClinVar Genomic variation as it relates to human health
NM_025114.4(CEP290):c.5227-23dup
Germline
Classification
(4)
Benign/Likely benign
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 |
3564 | 3735 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jan 31, 2024 | RCV001509979.7 | |
Benign (2) |
|
- | RCV001699561.2 | |
Likely benign (1) |
|
Jul 26, 2021 | RCV002501750.1 |
Citations for germline classification of this variant
HelpText-mined citations for rs747878752 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Sep 29, 2024