Gene Symbol:
CAV3
HGNC:1529
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3p25.3
Filters:

Definitive classifications

Strong classifications

autosomal dominant limb-girdle muscular dystrophy type 1C
Submitted as: OMIM:607801
AR
06/26/2018
Evaluated
11/30/2023
Submitted

Moderate classifications

rippling muscle disease 2
Submitted as: OMIM:606072
AD
08/31/2018
Evaluated
12/24/2020
Submitted
long QT syndrome 9
Submitted as: OMIM:611818
AD
08/31/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

inherited rippling muscle disease
Submitted as: Orphanet:97238
AD
09/14/2021
Evaluated
09/14/2021
Submitted
distal myopathy, Tateyama type
Submitted as: Orphanet:488650
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

hypertrophic cardiomyopathy 1
Submitted as: OMIM:192600
AD
08/06/2020
Evaluated
11/06/2020
Submitted
AD
03/02/2021
Evaluated
03/31/2021
Submitted
AD
12/15/2020
Evaluated
10/18/2023
Submitted
long QT syndrome 9
Submitted as: OMIM:611818
AD
02/04/2020
Evaluated
11/30/2023
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.