ClinVar Genomic variation as it relates to human health
NM_025114.4(CEP290):c.322C>T (p.Arg108Ter)
Germline
Classification
(6)
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 |
3563 | 3734 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 22, 2023 | RCV000810939.9 | |
Pathogenic (1) |
|
Mar 15, 2018 | RCV001030763.2 | |
Pathogenic (1) |
|
Sep 16, 2020 | RCV001274136.2 | |
Pathogenic (2) |
|
Jan 25, 2024 | RCV001542774.5 | |
Pathogenic (1) |
|
May 20, 2022 | RCV002290458.3 |
Citations for germline classification of this variant
HelpText-mined citations for rs1290241933 ...
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 Jul 15, 2024