ClinVar Miner

Variants studied for Congenital myasthenic syndrome

Coded as:
Minimum submission review status: Collection method:
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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 not provided total
53 37 324 41 54 19 504

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
RAPSN 9 7 81 8 9 3 114
C17orf107, CHRNE 11 5 63 10 7 1 89
CHRNE 6 6 50 7 15 1 77
CHRND 0 0 56 4 8 0 68
CHRNA1 0 1 36 4 5 0 46
CHRNE, LOC130060041 3 0 16 5 1 0 23
CHRNE, MINK1 0 0 9 1 7 0 17
DOK7 6 8 1 0 0 1 15
CHRNE, LOC130060040 0 0 10 0 0 0 10
CHAT 4 5 0 0 0 1 9
COLQ 7 1 0 0 0 0 8
AGRN 1 1 0 0 0 5 7
GFPT1 3 3 0 0 0 0 6
CHRND, CHRNG 0 0 0 2 2 0 4
AGRN, LOC126805576 0 0 0 0 0 2 2
GH-LCR, SCN4A 0 0 0 0 0 2 2
RYR1 0 0 2 0 0 0 2
AGRN, LOC129929078 0 0 0 0 0 1 1
C17orf107, CHRNE, LOC125177409, LOC130060043 1 0 0 0 0 0 1
C17orf107, CHRNE, MINK1 1 0 0 0 0 1 1
SCN4A 0 0 0 0 0 1 1
TAPBPL, VAMP1 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 14
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Natera, Inc. 18 9 169 28 22 0 246
Illumina Laboratory Services, Illumina 0 2 159 17 42 0 220
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 33 24 0 0 0 0 57
GeneReviews 2 0 0 0 0 19 21
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 3 3 0 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 2 0 0 0 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 1 0 0 0 0 0 1
Neurology Laboratory, The First Affiliated Hospital of Nanchang University 1 0 0 0 0 0 1
Breakthrough Genomics, Breakthrough Genomics 0 1 0 0 0 0 1

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