ClinVar Miner

Variants studied for Bethlem myopathy 1

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
92 53 417 224 179 2 951

Gene and significance breakdown #

Total genes and gene combinations: 7
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL6A3 22 16 204 97 89 0 424
COL6A2 38 21 120 72 38 2 286
COL6A1 30 16 91 55 49 0 234
COL6A2, FTCD 0 0 0 0 3 0 3
COL6A1, COL6A2 1 0 1 0 0 0 2
ACKR3, COL6A3, COPS8, LOC110121230, LOC112840913, LOC93463 0 0 1 0 0 0 1
TRMU 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 42 25 400 224 169 0 860
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 46 14 1 0 0 0 61
Athena Diagnostics Inc 0 0 0 0 21 0 21
Fulgent Genetics 0 0 16 0 0 0 16
OMIM 14 0 0 0 0 0 14
Genomic Research Center,Shahid Beheshti University of Medical Sciences 1 4 6 0 0 0 11
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 0 0 0 3
Institute of Human Genetics,Cologne University 1 1 0 0 0 0 2
Mendelics 0 0 2 0 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 0 2 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 1 1 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 1 0 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 1

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