ClinVar Miner

Variants studied for congenital myasthenic syndrome 12

Included ClinVar conditions (2):
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 total
31 17 243 176 49 501

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GFPT1 31 16 242 176 49 499
FAT1 0 1 0 0 0 1
RYR1 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 23 7 123 165 22 340
Illumina Laboratory Services, Illumina 0 1 116 12 30 159
OMIM 8 0 0 0 0 8
Fulgent Genetics, Fulgent Genetics 2 2 1 0 0 5
3billion, Medical Genetics 1 2 1 0 0 4
Genome-Nilou Lab 0 0 0 0 3 3
Baylor Genetics 0 1 1 0 0 2
Revvity Omics, Revvity 1 0 1 0 0 2
MGZ Medical Genetics Center 0 1 1 0 0 2
Genetic Diseases Diagnostic Center, Koc University Hospital 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 1 0 0 2
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 0 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 1 0 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 0 0 0 1
New York Genome Center 1 0 0 0 0 1
Pars Genome Lab 1 0 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 0 0 1 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 1

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