ClinVar Miner

Variants in gene MEGF10

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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
17 12 373 151 58 552

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset 14 5 357 73 42 454
not provided 3 8 21 55 16 103
not specified 0 0 3 44 21 65
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant 3 0 0 0 0 3

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 8 5 203 74 26 316
Illumina Clinical Services Laboratory,Illumina 0 0 169 15 17 201
GeneDx 2 6 10 72 34 124
PreventionGenetics, PreventionGenetics 0 0 0 7 16 23
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 6 2 0 10
Athena Diagnostics Inc 0 0 2 2 5 9
OMIM 8 0 0 0 0 8
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 0 8 8
Baylor Genetics 1 0 2 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 2 0 0 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 2 0 0 2
Lineagen, Inc 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 1 0 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 1

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