ClinVar Miner

Variants studied for Congenital myasthenic syndrome 4A

Coded as:
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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
161 104 291 628 35 1184

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 90 69 154 388 14 694
CHRNE 41 22 79 148 16 297
CHRNE, LOC130060041 16 6 32 44 3 99
CHRNE, LOC130060040 11 6 24 48 2 88
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: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Labcorp Genetics (formerly Invitae), Labcorp 146 42 286 628 31 1133
Baylor Genetics 49 70 3 0 0 122
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
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 1 0 1 0 0 2
3billion 1 1 0 0 0 2
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 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
Neuberg Centre For Genomic Medicine, NCGM 1 0 0 0 0 1
MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN 1 0 0 0 0 1

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