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ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel (ClinGen), Rett/AS VCEP

Summary of submissions to ClinVar

Total submissions: 359

Gene

GeneSubmissionsLast Updated
CDKL571Dec 11, 2023
FOXG148Jun 30, 2024
LOC1268627571Dec 11, 2023
LOC1300687463Mar 31, 2024
LOC1300687471Dec 11, 2023
LOC1300688544Dec 23, 2022
MECP2143Jun 30, 2024
RS114Dec 8, 2023
SLC9A627Jun 30, 2024
SNHG1447Dec 11, 2023
TCF423Mar 31, 2024
TCF4-AS11Jun 3, 2021
UBE3A47Dec 11, 2023

Condition

NameSubmissionsLast Updated
Angelman syndrome47Dec 11, 2023
CDKL5 disorder71Dec 11, 2023
Christianson syndrome27Jun 30, 2024
FOXG1 disorder48Jun 30, 2024
Pitt-Hopkins syndrome23Mar 31, 2024
Rett syndrome143Jun 30, 2024