ClinVar Miner

Variants in gene MUSK

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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
14 13 175 64 49 282

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 8 4 129 33 22 196
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 5 2 53 10 10 80
not provided 1 3 15 23 21 60
not specified 0 0 4 16 18 33
Pena-Shokeir syndrome type I 2 4 5 0 0 10
Congenital Myasthenic Syndrome, Recessive 0 0 2 0 0 2
Congenital myasthenic syndrome 4C 1 1 0 0 0 2
Respiratory insufficiency; Stridor; Bilateral ptosis; Delayed gross motor development 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 15
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 8 4 129 45 24 210
Illumina Clinical Services Laboratory,Illumina 0 0 53 10 10 73
GeneDx 1 3 3 7 28 42
PreventionGenetics, PreventionGenetics 0 0 0 9 14 23
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 6 6 2 14
Genetic Services Laboratory, University of Chicago 1 1 2 4 5 13
Baylor Genetics 0 0 8 0 0 8
Athena Diagnostics Inc 0 0 3 1 4 8
OMIM 7 0 0 0 0 7
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 6 1 0 7
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 0 0 2
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 1

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