ClinGen

GenCC Ref: GENCC:000102

ClinGen

This page is a summary of submissions provided by ClinGen. Click here to be notified about GenCC updates.

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building a central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.


Website
Personnel
Marina DiStefano, Coordinator
Email: mdistefa@broadinstitute.org

Assertion Criteria

Submissions

2609 total number of submissions
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complex neurodevelopmental disorder
AD
03/25/2020
Evaluated
04/21/2024
Submitted
developmental and epileptic encephalopathy
AR
02/02/2021
Evaluated
04/21/2024
Submitted
intellectual developmental disorder with autistic features and language delay, with or without seizures
AD
09/07/2022
Evaluated
04/21/2024
Submitted
syndromic intellectual disability
AD
08/04/2021
Evaluated
04/21/2024
Submitted
MHC class I deficiency
AR
07/20/2023
Evaluated
04/21/2024
Submitted
amyotrophic lateral sclerosis type 10
AD
07/27/2021
Evaluated
04/21/2024
Submitted
Peutz-Jeghers syndrome
AD
12/20/2023
Evaluated
04/21/2024
Submitted
frontotemporal dementia and/or amyotrophic lateral sclerosis 4
AD
11/03/2022
Evaluated
04/21/2024
Submitted
complex neurodevelopmental disorder
AD
07/07/2020
Evaluated
04/21/2024
Submitted
tyrosinemia type II
AR
06/29/2020
Evaluated
04/21/2024
Submitted
pulmonary arterial hypertension
AD
03/10/2021
Evaluated
04/21/2024
Submitted
Holt-Oram syndrome
AD
07/27/2021
Evaluated
04/21/2024
Submitted
X-linked syndromic intellectual disability
XL
07/18/2018
Evaluated
04/21/2024
Submitted
Fanconi anemia complementation group P
AR
10/27/2023
Evaluated
04/21/2024
Submitted
PTEN hamartoma tumor syndrome
AD
04/05/2024
Evaluated
04/21/2024
Submitted
CDH1-related diffuse gastric and lobular breast cancer syndrome
AD
03/22/2024
Evaluated
04/21/2024
Submitted
Li-Fraumeni syndrome
AD
03/22/2024
Evaluated
04/21/2024
Submitted
hypomagnesemia, seizures, and intellectual disability 1
SD
02/15/2024
Evaluated
04/21/2024
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.