ClinVar Miner

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

Coded as:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
42 43 385 273 29 5 744

Gene and significance breakdown #

Total genes and gene combinations: 2
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
LRSAM1 42 43 383 273 28 5 741
LOC130002648, LRSAM1 0 0 2 0 1 0 3

Submitter and significance breakdown #

Total submitters: 29
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 37 31 342 260 25 0 695
Illumina Laboratory Services, Illumina 0 0 43 25 14 0 82
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 5 6 4 0 15
Revvity Omics, Revvity 0 3 2 0 0 0 5
OMIM 4 0 0 0 0 0 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 4 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
MGZ Medical Genetics Center 0 3 0 0 0 0 3
Mendelics 0 1 1 0 1 0 3
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 3 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 2 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Fulgent Genetics, Fulgent Genetics 0 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 1 0 0 0 2
Biochimie - Maladies Neurologiques Hereditaires, Hospices Civils de Lyon 2 0 0 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Laboratório de Neurologia Aplicada e Experimental, Faculdade de Medicina de Ribeirao Preto – Universidade de Sao Paulo 0 1 1 0 0 0 2
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 1 0 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 0 0 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 0 1
Service de genetique medicale, Pr. Levy, Hopital de La Timone Enfants, APHM 0 1 0 0 0 0 1
Gemeinschaftspraxis fuer Humangenetik Dresden 0 1 0 0 0 0 1
Critical Care Medical Center, Fujian Provincial Hospital 1 0 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.