ClinVar Miner

Variants studied for Congenital myasthenic syndrome 8

Coded as:
Minimum submission review status: Collection method:
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Gene type:

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
51 25 1019 1051 114 7 2229

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 45 22 964 990 110 7 2102
AGRN, LOC126805576 1 1 28 27 3 0 60
AGRN, LOC129929077 1 1 14 22 0 0 37
AGRN, LOC129929078 1 1 12 12 1 0 26
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, TMEM278, TMEM52, 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: 37
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 39 14 969 1040 104 0 2166
Revvity Omics, Revvity 1 3 79 2 1 0 86
Genome-Nilou Lab 0 0 0 1 19 0 20
Baylor Genetics 0 1 16 0 0 0 17
Fulgent Genetics, Fulgent Genetics 0 0 7 3 0 0 10
3billion 1 0 0 8 0 0 9
Neuberg Centre For Genomic Medicine, NCGM 0 0 8 0 0 0 8
Department of Neurology, Xiangya Hospital Central South University 6 0 0 0 0 0 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 1 0 0 0 4
GenomeConnect, ClinGen 0 0 0 0 0 3 3
OMIM 3 0 0 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 2 0 0 0 2
GenomeConnect - Brain Gene Registry 0 0 0 0 0 2 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 2 0 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
Mendelics 0 1 0 1 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Undiagnosed Diseases Network, NIH 2 0 0 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 1 0 0 0 0 0 1
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 1 0 0 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 1 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Genetic Diseases Diagnostic Center, Koc University Hospital 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 1 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 1 0 0 0 1
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center 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
Royal Medical Services, Bahrain Defence Force Hospital 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 1 0 1
Variantyx, Inc. 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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