ClinVar Miner

Variants studied for congenital myasthenic syndrome 6

Included ClinVar conditions (1):
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 not provided total
60 57 286 451 44 1 855

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
CHAT 59 57 284 451 43 1 851
CHAT, SLC18A3 0 0 2 0 1 0 3
LOC107303340, VHL 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 22
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 50 18 244 450 38 0 800
Baylor Genetics 7 36 10 0 0 0 53
Revvity Omics, Revvity 1 3 45 0 0 0 49
OMIM 11 0 0 0 0 0 11
Genome-Nilou Lab 0 0 0 0 8 0 8
Fulgent Genetics, Fulgent Genetics 0 0 2 1 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 0 3 0 0 0 3
Genetic Services Laboratory, University of Chicago 0 2 0 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 1 0 0 0 0 2
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 1 1 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 2 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 2 0 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 0 0 0 0 0 2
3billion 2 0 0 0 0 0 2
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 1

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