Gene Symbol:
COL6A3
HGNC:2213
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q37.3
Filters:

Ambry Genetics classifications

Bethlem myopathy 1A
Submitted as: OMIM:158810
SD
09/14/2015
Evaluated
12/24/2020
Submitted
AR
08/30/2018
Evaluated
12/24/2020
Submitted
Ullrich congenital muscular dystrophy 1A
Submitted as: OMIM:254090
SD
09/14/2015
Evaluated
12/24/2020
Submitted

ClinGen classifications

collagen 6-related myopathy
AD
06/27/2022
Evaluated
04/21/2024
Submitted
collagen 6-related myopathy
AR
06/27/2022
Evaluated
04/21/2024
Submitted

Genomics England PanelApp classifications

Bethlem myopathy 1A
Submitted as: OMIM:158810
AD
03/04/2020
Evaluated
03/31/2021
Submitted
Ullrich congenital muscular dystrophy 1A
Submitted as: OMIM:254090
AD
03/04/2020
Evaluated
03/31/2021
Submitted
Bethlem myopathy 1A
Submitted as: OMIM:158810
AR
03/04/2020
Evaluated
03/31/2021
Submitted
Ullrich congenital muscular dystrophy 1A
Submitted as: OMIM:254090
AR
03/04/2020
Evaluated
03/31/2021
Submitted

Illumina classifications

AR
02/05/2021
Evaluated
10/27/2022
Submitted

Invitae classifications

Ullrich congenital muscular dystrophy 1A
Submitted as: OMIM:254090
AD
07/27/2020
Evaluated
11/30/2023
Submitted
Ullrich congenital muscular dystrophy 1A
Submitted as: OMIM:254090
AR
07/27/2020
Evaluated
11/30/2023
Submitted
AR
12/14/2018
Evaluated
11/30/2023
Submitted

Orphanet classifications

Bethlem myopathy
Submitted as: Orphanet:610
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Ullrich congenital muscular dystrophy
Submitted as: Orphanet:75840
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AR
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

Ullrich congenital muscular dystrophy 1A
Submitted as: OMIM:254090
AR
01/08/2016
Evaluated
09/11/2023
Submitted

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