ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease axonal type 2Z

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
14 15 426 371 33 2 848

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
MORC2 14 15 426 371 33 2 848

Submitter and significance breakdown #

Total submitters: 38
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 12 5 412 366 31 0 826
Genome-Nilou Lab 0 0 0 0 20 0 20
Baylor Genetics 0 1 4 0 0 0 5
Mendelics 3 0 2 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 0 4 0 0 4
3billion 1 1 1 0 0 0 3
Laboratory of Functional Genomics, Research Centre for Medical Genetics 2 0 1 0 0 0 3
OMIM 3 0 0 0 0 0 3
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 2 0 0 0 0 2
Juno Genomics, Hangzhou Juno Genomics, Inc 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 1 0 1 0 0 0 2
Solve-RD Consortium 0 2 0 0 0 0 2
Breda Genetics srl, Breda Genetics srl 0 0 1 0 0 0 1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen 0 0 1 0 0 0 1
Center of Human Genetics, Hôpital Erasme 1 0 0 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 1 0 0 1
Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada 0 1 0 0 0 0 1
Clinical Omics and Informatics (COIN) Unit, Neuroscience Institute, University Of Cape Town 1 0 0 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 1 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
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1
Human Genetics Bochum, Ruhr University Bochum 0 1 0 0 0 0 1
Institute of Human Genetics Munich, TUM University Hospital 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 0 1
Institute of Human Genetics, University of Wuerzburg 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 1 0 0 0 0 0 1
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 1 0 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Next Generation Genetic Polyclinic 0 0 1 0 0 0 1
The Genetics Institute, Rambam Health Care Campus 0 1 0 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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