ClinVar Genomic variation as it relates to human health
NM_000329.3(RPE65):c.1282_1303del (p.Gly428fs)
Germline
Top reviewed classifications are shown here.
Submission summary:
Reviewed by expert panel
Likely Pathogenic
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 |
957 | 983 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 29, 2022 | RCV003052506.3 | |
Likely pathogenic (1) |
|
Apr 22, 2024 | RCV004527450.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 29, 2024