ClinVar Miner

Variants studied for hereditary continuous muscle fiber activity

Included ClinVar conditions (1):
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
20 14 340 171 58 5 596

Gene and significance breakdown #

Total genes and gene combinations: 5
Download table as spreadsheet
Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
KCNA1 20 14 315 164 57 5 563
KCNA1, LOC130007218 0 0 22 7 1 0 30
AKAP3, ANO2, DYRK4, FERRY3, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, NTF3, RAD51AP1, VWF 0 0 1 0 0 0 1
AKAP3, CCND2, DYRK4, FERRY3, FGF23, FGF6, GALNT8, KCNA1, KCNA5, KCNA6, NDUFA9, RAD51AP1, TIGAR 0 0 1 0 0 0 1
KCNA1, KCNA5 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 26
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 11 4 226 169 7 0 417
Illumina Laboratory Services, Illumina 0 0 95 1 56 0 152
Fulgent Genetics, Fulgent Genetics 0 0 32 7 1 0 40
OMIM 11 0 0 0 0 0 11
Revvity Omics, Revvity 0 1 5 0 0 0 6
GeneReviews 1 0 0 0 0 3 4
Institute of Human Genetics, University of Leipzig Medical Center 1 1 2 0 0 0 4
Genome-Nilou Lab 0 0 0 0 4 0 4
MGZ Medical Genetics Center 0 1 1 0 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 1 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 2
Baylor Genetics 0 0 1 0 0 0 1
Institute of Human Genetics, University of Goettingen 0 1 0 0 0 0 1
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 1 0 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 1 0 0 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 1 0 0 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 1 0 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Molecular Genetics Laboratory, Motol Hospital 0 1 0 0 0 0 1
3billion, Medical Genetics 0 1 0 0 0 0 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 1 0 0 0 0 0 1
Solve-RD Consortium 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 0 1 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.