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

2345 total number of submissions
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TSPAN12-related vitreoretinopathy
SD
03/02/2022
Evaluated
10/18/2023
Submitted
AR
11/10/2021
Evaluated
10/18/2023
Submitted
multiple intestinal atresia
AR
10/21/2021
Evaluated
10/18/2023
Submitted
dilated cardiomyopathy
AD
11/06/2020
Evaluated
10/18/2023
Submitted
TTN-related myopathy
AR
01/11/2022
Evaluated
10/18/2023
Submitted
hereditary ATTR amyloidosis
AD
12/11/2017
Evaluated
10/18/2023
Submitted
macrothrombocytopenia, isolated, 1, autosomal dominant
AD
10/23/2019
Evaluated
10/18/2023
Submitted
complex cortical dysplasia with other brain malformations
AD
04/26/2020
Evaluated
10/18/2023
Submitted
lissencephaly spectrum disorders
AD
04/26/2022
Evaluated
10/18/2023
Submitted
microcephaly and chorioretinopathy 1
AR
06/05/2023
Evaluated
10/18/2023
Submitted
intellectual disability
AR
04/07/2020
Evaluated
10/18/2023
Submitted
Saethre-Chotzen syndrome
AD
01/28/2021
Evaluated
10/18/2023
Submitted
oculocutaneous albinism type 1
AR
08/28/2020
Evaluated
10/18/2023
Submitted
syndromic X-linked intellectual disability Nascimento type
XL
07/02/2018
Evaluated
10/18/2023
Submitted
AD
05/02/2018
Evaluated
10/18/2023
Submitted
oculocerebrofacial syndrome, Kaufman type
AR
07/30/2021
Evaluated
10/18/2023
Submitted
amyotrophic lateral sclerosis type 15
XL
04/13/2021
Evaluated
10/18/2023
Submitted
autosomal dominant medullary cystic kidney disease with or without hyperuricemia
AD
01/13/2021
Evaluated
10/18/2023
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.