ClinVar Miner

Variants in gene MORC2

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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
10 11 202 86 18 1 316

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Charcot-Marie-Tooth disease, axonal, type 2z 5 3 185 72 17 1 279
not provided 5 7 9 24 1 0 46
Charcot-Marie-Tooth disease 0 0 9 0 0 0 9
Inborn genetic diseases 1 0 4 0 0 0 5
DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY 4 0 0 0 0 0 4
Charcot-Marie-Tooth disease, type I 0 0 2 0 0 0 2
Autosomal dominant distal hereditary motor neuropathy 0 0 1 0 0 0 1
Charcot-Marie-Tooth disease type 4 0 0 1 0 0 0 1
Distal spinal muscular atrophy 0 0 1 0 0 0 1
Global developmental delay 1 0 0 0 0 0 1
MORC2-related developmental disorder 0 1 0 0 0 0 1
Neurodevelopmental disorder 1 0 0 0 0 0 1
not specified 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 3 1 182 84 16 0 286
GeneDx 3 5 5 0 0 0 13
Genesis Genome Database 0 0 12 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 2 2 4 2 0 0 10
OMIM 7 0 0 0 0 0 7
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 4 0 5
Ambry Genetics 1 0 4 0 0 0 5
Mendelics 1 0 2 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 1 0 0 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1
The Genetics Institute,Rambam Health Care Campus 0 1 0 0 0 0 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 1 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Inherited Neuropathy Consortium 0 0 1 0 0 0 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 1 0 0 0 0 0 1

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