ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel - Submitter

ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel (ClinGen)

General information

ClinGen Leber Congenital Amaurosis/early Onset Retinal Dystrophy Variant Curation Expert Panel
ClinGen
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/affiliation/50082/
Organization ID: 509356

Expert panel documentation

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/ClinGen/expert_panels/ClinGen_Leber_Congenital_Amaurosis_early_onset_Retinal_Dystrophy/

Personnel

Radha Ayyagari, Contact
Phone: 858-534-9029
Email: rayyagari@health.ucsd.edu
Lori Sullivan, Coordinator
Phone: 713-500-9819
Email: lori.s.sullivan@uth.tmc.edu

Assertion criteria

Level: Expert panel

ClinGen LCAeoRD ACMG Specifications RPE65 V1.0.0

Summary of submissions to ClinVar

Total submissions: 112

Gene

Gene	Submissions	Last Updated
RPE65	112	Apr 24, 2024

Condition

Name	Submissions	Last Updated
RPE65-related recessive retinopathy	112	Apr 24, 2024

ClinVar

Relating variation to medicine