ClinVar Miner

Variants studied for congenital myasthenic syndrome 4A

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
153 96 261 614 35 1126

Gene and significance breakdown #

Total genes and gene combinations: 9
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
C17orf107, CHRNE 85 65 137 376 14 658
CHRNE 40 19 73 147 16 285
CHRNE, LOC130060041 14 7 29 43 3 95
CHRNE, LOC130060040 11 5 20 48 2 83
C17orf107, CAMTA2, CHRNE, ENO3, GP1BA, INCA1, KIF1C, PFN1, RNF167, SLC25A11, SPAG7 0 0 1 0 0 1
C17orf107, CHRNE, GP1BA, LOC125177409, LOC130060040, LOC130060041, LOC130060042, LOC130060043, LOC130060044, LOC130060045, LOC130060046, LOC130060047, LOC130060048, LOC130060049, LOC130060050, LOC130060051, PFN1, RNF167, SLC25A11 0 0 1 0 0 1
C17orf107, CHRNE, GP1BA, PFN1, RNF167, SLC25A11 1 0 0 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 0 1
CHRNE, LOC130060040, LOC130060041 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 137 40 255 613 31 1076
Baylor Genetics 46 61 2 0 0 109
Fulgent Genetics, Fulgent Genetics 3 7 13 1 0 24
Genome-Nilou Lab 0 0 0 0 8 8
OMIM 5 0 0 0 0 5
MGZ Medical Genetics Center 0 1 1 0 0 2
Mendelics 2 0 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 2
New York Genome Center 1 0 1 0 0 2
3billion 1 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 1 0 0 1
Lifecell International Pvt. Ltd 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 1

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