ClinVar Miner

Variants studied for congenital myasthenic syndrome 10

Included ClinVar conditions (3):
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
83 27 331 506 47 2 980

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
DOK7 75 24 294 463 42 2 886
DOK7, LOC129992118 3 1 25 25 3 0 56
DOK7, LOC126806951 2 2 12 18 2 0 35
DOK7, LOC126806951, LOC129992118 3 0 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 27
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 73 16 323 505 46 0 963
Fulgent Genetics, Fulgent Genetics 2 0 8 2 0 0 12
OMIM 11 0 0 0 0 0 11
Baylor Genetics 6 1 4 0 0 0 11
Genetic Services Laboratory, University of Chicago 3 1 0 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Mendelics 2 0 0 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 1 1 0 0 0 2
Human Genetics Section, Sidra Medicine 0 2 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
3billion 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 0 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 0 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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