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
164 80 1285 635 206 4 2352

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
COL6A3 43 23 649 300 103 1 1110
COL6A2 62 36 363 191 48 3 695
COL6A1 57 21 269 144 51 0 537
COL6A1, COL6A2 1 0 2 0 0 0 3
COL6A2, FTCD 0 0 0 0 3 0 3
ACKR3, COL6A3, COPS8 1 0 1 0 0 0 2
ACKR3, COL6A3, COPS8, LOC110121230, LOC112840913, LOC93463 0 0 1 0 0 0 1
CLCN5 0 0 0 0 1 0 1

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 144 58 1261 634 191 0 2288
Mendelics 5 6 4 1 9 0 25
Athena Diagnostics Inc 0 0 0 0 21 0 21
Fulgent Genetics,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
Baylor Genetics 2 1 6 0 0 0 9
GeneReviews 7 0 0 0 0 0 7
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 2 0 2 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
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
Mayo Clinic 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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 1 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 1 0 2
Broad Institute Rare Disease Group, Broad Institute 0 0 0 0 2 0 2
Clinical Genetics laboratory, University of Goettingen 0 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 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
Molecular Biology Laboratory,Virgen Macarena University Hospital 0 1 0 0 0 0 1

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