ClinVar Miner

Variants in gene COLQ

Minimum submission review status: Collection method:
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Gene type:
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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 total
36 14 152 39 49 272

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Endplate acetylcholinesterase deficiency 33 10 135 22 21 211
not provided 6 4 15 8 27 59
not specified 0 0 1 13 14 25
Congenital Myasthenic Syndrome, Recessive 0 0 9 0 2 11
Congenital myasthenic syndrome 1 1 0 0 0 2

Submitter and significance breakdown #

Total submitters: 24
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 22 5 90 24 10 151
Illumina Clinical Services Laboratory,Illumina 0 0 59 4 16 79
GeneDx 3 3 0 5 32 43
PreventionGenetics, PreventionGenetics 0 0 0 8 11 19
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 9 1 2 14
OMIM 10 0 0 0 0 10
CeGaT Praxis fuer Humangenetik Tuebingen 1 0 5 0 0 6
Genetic Services Laboratory, University of Chicago 0 0 1 2 2 5
Baylor Genetics 1 0 3 0 0 4
Athena Diagnostics Inc 1 1 0 0 2 4
Mendelics 2 0 0 0 1 3
University of Malaya Medical Center,University of Malaya 2 1 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 2
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 1 1 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 1 0 1 0 0 2
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 2 0 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Lineagen, Inc 0 0 1 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 1 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 1 0 0 0 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 0 0 1

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