ClinVar Miner

Variants studied for Bethlem myopathy 1

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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 51 409 224 169 1 932

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 14 201 97 83 0 413
COL6A2 38 21 117 72 38 1 283
COL6A1 30 16 89 55 45 0 229
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: 14
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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
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
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 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
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1

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