ClinVar Miner

Variants in gene DAG1

See also:
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
13 16 478 234 32 14 707

Condition and significance breakdown #

Total conditions: 11
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Autosomal recessive limb-girdle muscular dystrophy type 2P; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 6 2 330 208 14 2 558
not provided 1 9 200 37 23 12 261
Inborn genetic diseases 0 0 92 5 0 0 97
not specified 0 0 11 22 15 0 41
DAG1-related disorder 1 0 2 19 3 0 25
Autosomal recessive limb-girdle muscular dystrophy type 2P 3 4 3 0 4 0 13
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2 0 6 1 1 0 10
Elevated circulating creatine kinase concentration 0 1 0 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 0 0 1 0 0 0 1
Myopathy 0 0 1 0 0 0 1
Qualitative or quantitative defects of alpha-dystroglycan 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 40
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 6 2 329 211 13 0 561
Eurofins Ntd Llc (ga) 0 3 111 5 2 0 121
Ambry Genetics 0 0 92 5 0 0 97
Revvity Omics, Revvity 0 1 92 2 0 0 95
GeneDx 1 4 32 26 22 0 85
Athena Diagnostics 0 0 20 6 8 0 34
PreventionGenetics, part of Exact Sciences 0 0 2 21 8 0 31
Breakthrough Genomics, Breakthrough Genomics 0 0 5 6 14 0 25
CeGaT Center for Human Genetics Tuebingen 0 0 5 13 3 0 21
Leiden Muscular Dystrophy (DAG1) 0 0 0 0 0 11 11
Genetic Services Laboratory, University of Chicago 0 0 5 4 0 0 9
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 4 3 0 0 7
OMIM 5 0 0 0 0 0 5
Fulgent Genetics, Fulgent Genetics 0 0 3 1 1 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 3 0 4
Baylor Genetics 0 1 2 0 0 0 3
Mayo Clinic Laboratories, Mayo Clinic 0 0 3 0 0 0 3
Institute of Human Genetics, University of Wuerzburg 0 3 0 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 3 0 0 0 3
Genome-Nilou Lab 0 0 0 0 3 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 2
Clinical Genetics, Academic Medical Center 0 0 0 0 2 0 2
Mendelics 0 0 0 0 2 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 2 0 0 0 2
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 1 1 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 2 0 2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 2 0 0 2
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 1 0 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 1 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 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.