ClinVar Miner

Variants in gene DAG1

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Gene type:
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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
12 8 239 81 19 13 329

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Limb-girdle muscular dystrophy-dystroglycanopathy, type C9; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 6 1 152 44 10 0 213
not provided 1 7 121 34 4 13 168
not specified 0 0 7 23 14 0 36
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 2 0 4 1 0 0 7
Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 3 0 0 0 3 0 5
Intellectual disability 0 0 1 0 0 0 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 0 0 1 0 0 0 1
Myopathy 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 20
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 1 152 61 10 0 230
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 3 111 5 2 0 121
GeneDx 1 4 9 21 10 0 45
Athena Diagnostics Inc 0 0 13 3 5 0 21
Leiden Muscular Dystrophy (DAG1) 0 0 0 0 0 12 12
PreventionGenetics, PreventionGenetics 0 0 0 6 5 0 11
Genetic Services Laboratory, University of Chicago 0 0 3 3 0 0 6
OMIM 5 0 0 0 0 0 5
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 0 1 3 0 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 2 1 0 0 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 3 0 0 0 3
Baylor Genetics 0 0 2 0 0 0 2
Mendelics 0 0 0 0 2 0 2
Fulgent Genetics,Fulgent Genetics 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
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 1 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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