ClinVar Miner

Variants in gene MUSK

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 not provided total
46 32 318 380 88 3 794

Condition and significance breakdown #

Total conditions: 11
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9 41 16 226 330 40 3 651
not provided 3 7 78 37 50 0 171
Congenital myasthenic syndrome 9 6 5 55 10 12 0 88
Inborn genetic diseases 0 0 50 0 0 0 50
not specified 0 0 5 17 18 0 36
MUSK-related condition 0 0 2 15 4 0 21
Fetal akinesia deformation sequence 1 2 6 7 0 2 0 16
Congenital Myasthenic Syndrome, Recessive 0 0 2 0 0 0 2
Congenital myasthenic syndrome 4C 1 1 0 0 0 0 2
Respiratory insufficiency; Stridor; Bilateral ptosis; Delayed gross motor development 0 2 0 0 0 0 2
MUSK-Related Disorders 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 41 16 225 331 40 0 653
GeneDx 2 3 10 31 59 0 105
Illumina Laboratory Services, Illumina 0 0 53 10 10 0 73
Revvity Omics, Revvity 0 4 55 0 0 0 59
Ambry Genetics 0 0 50 0 0 0 50
PreventionGenetics, part of Exact Sciences 0 0 2 23 18 0 43
Eurofins Ntd Llc (ga) 0 0 6 6 2 0 14
CeGaT Center for Human Genetics Tuebingen 0 0 5 8 1 0 14
Genetic Services Laboratory, University of Chicago 1 1 2 4 5 0 13
Baylor Genetics 2 0 10 0 0 0 11
Athena Diagnostics Inc 0 0 5 1 4 0 10
OMIM 7 0 0 0 0 0 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 1 2 0 0 4
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 2 2 0 0 0 4
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Fulgent Genetics, Fulgent Genetics 0 0 1 1 0 0 2
Scripps Translational Science Institute, Scripps Health and The Scripps Research Institute 0 2 0 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 2 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 1 0 0 0 1 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 2 0 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 1 0 1 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 1 0 0 0 1
Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1

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