ClinVar Miner

Variants studied for congenital myasthenic syndrome 4B

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
20 45 18 1 7 86

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
C17orf107, CHRNE 12 24 13 0 2 48
CHRNE 5 15 3 1 3 25
CHRNE, LOC130060041 2 4 2 0 1 9
CHRNE, LOC130060040 0 2 0 0 1 3
C17orf107, CHRNE, MINK1 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
Fulgent Genetics, Fulgent Genetics 10 39 13 1 0 63
Genome-Nilou Lab 0 0 0 0 7 7
OMIM 5 0 0 0 0 5
Baylor Genetics 2 2 1 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 2 0 0 3
3billion, Medical Genetics 3 0 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 1 1 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
New York Genome Center 1 0 1 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 1 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 1
Suma Genomics 1 0 0 0 0 1
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital 0 1 0 0 0 1
Palindrome, Gene Kavoshgaran Aria 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 1

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