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
156 108 262 614 35 1139

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 88 70 138 376 14 665
CHRNE 40 24 73 147 16 289
CHRNE, LOC130060041 14 7 29 43 3 95
CHRNE, LOC130060040 11 6 20 48 2 84
C17orf107, CHRNE, MINK1 1 1 0 0 0 2
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
CHRNE, LOC130060040, LOC130060041 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 139 42 255 613 31 1080
Baylor Genetics 49 70 3 0 0 122
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 1 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 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 Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 1 0 0 0 0 1

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