ClinVar Miner

Variants in gene DAG1

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Minimum submission review status: Collection method:
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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
11 14 449 210 32 14 653

Condition and significance breakdown #

Total conditions: 11
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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 5 2 328 185 14 2 533
not provided 1 9 193 35 19 12 249
Inborn genetic diseases 0 0 40 2 0 0 42
not specified 0 0 10 18 14 0 37
DAG1-related condition 0 0 0 19 3 0 22
Autosomal recessive limb-girdle muscular dystrophy type 2P 3 2 1 0 4 0 9
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 2 0 5 1 1 0 9
Elevated circulating creatine kinase concentration 0 1 0 0 0 0 1
Intellectual disability 0 0 1 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

Submitter and significance breakdown #

Total submitters: 34
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 5 2 328 188 13 0 536
Eurofins Ntd Llc (ga) 0 3 111 5 2 0 121
Revvity Omics, Revvity 0 1 92 2 0 0 95
GeneDx 1 4 16 26 22 0 69
Ambry Genetics 0 0 40 2 0 0 42
Athena Diagnostics Inc 0 0 21 4 7 0 32
PreventionGenetics, part of Exact Sciences 0 0 0 21 8 0 29
CeGaT Center for Human Genetics Tuebingen 0 0 5 10 3 0 18
Leiden Muscular Dystrophy (DAG1) 0 0 0 0 0 11 11
Genetic Services Laboratory, University of Chicago 0 0 5 4 0 0 9
OMIM 5 0 0 0 0 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
Fulgent Genetics, Fulgent Genetics 0 0 1 1 1 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 0 2 0 0 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
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Mayo Clinic Laboratories, Mayo Clinic 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 Wuerzburg 0 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 0 1 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

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