ClinVar Genomic variation as it relates to human health
NM_000329.3(RPE65):c.644-2A>G
Germline
Classification
(3)
Likely 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 | |||
RPE65 | - | - |
GRCh38 GRCh37 |
944 | 970 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 1, 2023 | RCV003226664.1 | |
Likely pathogenic (1) |
|
Jun 16, 2022 | RCV003466042.1 | |
Likely pathogenic (1) |
|
Nov 17, 2023 | RCV003779809.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 05, 2024