ClinVar Miner

Variants studied for Congenital myasthenic syndrome 8

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 not provided total
41 19 972 866 113 6 1994

Gene and significance breakdown #

Total genes and gene combinations: 8
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
AGRN 36 16 920 814 109 6 1880
AGRN, LOC126805576 0 1 26 22 3 0 52
AGRN, LOC129929077 1 1 13 20 0 0 34
AGRN, LOC129929078 1 1 12 10 1 0 24
ACAP3, AGRN, ANKRD65, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FNDC10, GABRD, GNB1, INTS11, MIB2, MIR200A, MIR200B, MIR429, MMP23B, MRPL20, MXRA8, NADK, PRKCZ, PUSL1, RNF223, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF18, TNFRSF4, TTLL10, UBE2J2, VWA1 1 0 0 0 0 0 1
ACAP3, AGRN, B3GALT6, C1QTNF12, C1orf159, INTS11, LINC01342, LINC01786, LOC100288175, LOC105378948, LOC106783496, LOC110599576, LOC112577469, LOC115801415, LOC126805576, LOC126805577, LOC129388419, LOC129388420, LOC129388421, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, PUSL1, RNF223, SCNN1D, SDF4, SNORD167, TNFRSF18, TNFRSF4, TTLL10, UBE2J2 1 0 0 0 0 0 1
AGRN, B3GALT6, C1orf159, MIR200A, MIR200B, MIR429, RNF223, SDF4, TNFRSF18, TNFRSF4, TTLL10 0 0 1 0 0 0 1
AGRN, PERM1 1 0 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 not provided total
Invitae 29 12 947 863 104 0 1955
Revvity Omics, Revvity 1 2 38 0 0 0 41
Genome-Nilou Lab 0 0 0 1 19 0 20
Baylor Genetics 0 0 16 0 0 0 16
Fulgent Genetics, Fulgent Genetics 0 0 5 3 0 0 8
Department of Neurology, Xiangya Hospital Central South University 6 0 0 0 0 0 6
OMIM 3 0 0 0 0 0 3
Mendelics 0 1 0 1 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Breda Genetics srl 0 0 1 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 0 0 0 0 1

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