ClinGen

GenCC Ref: GENCC:000102

ClinGen

This page is a summary of pilot 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

1451 total number of submissions
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Nance-Horan syndrome
XL
10/20/2017
Evaluated
08/16/2021
Submitted
complex neurodevelopmental disorder
XL
07/17/2019
Evaluated
08/16/2021
Submitted
oculocerebrorenal syndrome
XL
07/10/2020
Evaluated
08/16/2021
Submitted
ornithine carbamoyltransferase deficiency
XL
10/29/2019
Evaluated
08/16/2021
Submitted
X-linked syndromic intellectual disability
XL
08/13/2018
Evaluated
08/16/2021
Submitted
complex neurodevelopmental disorder
XL
09/04/2018
Evaluated
08/16/2021
Submitted
Borjeson-Forssman-Lehmann syndrome
XL
02/21/2018
Evaluated
08/16/2021
Submitted
syndromic X-linked intellectual disability Siderius type
XL
11/07/2018
Evaluated
08/16/2021
Submitted
Pelizaeus-Merzbacher disease
XL
03/07/2018
Evaluated
08/16/2021
Submitted
focal dermal hypoplasia
XL
08/05/2020
Evaluated
08/16/2021
Submitted
nonsyndromic genetic deafness
XL
01/05/2018
Evaluated
08/16/2021
Submitted
Renpenning syndrome
XL
11/09/2018
Evaluated
08/16/2021
Submitted
PRPS1 deficiency disorder
XL
02/14/2020
Evaluated
08/16/2021
Submitted
non-syndromic X-linked intellectual disability
XL
09/19/2018
Evaluated
08/16/2021
Submitted
early-onset parkinsonism-intellectual disability syndrome
XL
06/04/2018
Evaluated
08/16/2021
Submitted
Coffin-Lowry syndrome
XL
05/28/2019
Evaluated
08/16/2021
Submitted
X-linked retinoschisis
XL
12/18/2020
Evaluated
08/16/2021
Submitted
Allan-Herndon-Dudley syndrome
XL
08/09/2018
Evaluated
08/16/2021
Submitted

The GenCC database is currently released under a Fort Lauderdale Agreement for the benefit of the wider biomedical community. You can freely download and search the data, and we encourage the use and publications of validity data for specific targeted sets of genes. However, we ask that you not publish global (site-wide) analyses of these data, or of large gene sets, until after the GenCC flagship paper has been published (estimated to be spring 2021). After the flagship publication, data will be 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 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.