ClinVar Miner

Variants in gene DAGLA

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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 total
6 1 71 21 10 108

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Inborn genetic diseases 0 0 50 4 0 54
not provided 0 1 13 8 5 27
DAGLA-related disorder 0 0 5 10 8 23
Benign paroxysmal tonic upgaze of childhood with ataxia 6 0 2 0 0 7
Attention deficit hyperactivity disorder 0 0 1 0 0 1
Autism 0 0 1 0 0 1
See cases 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Ambry Genetics 0 0 50 4 0 54
PreventionGenetics, part of Exact Sciences 0 0 4 10 8 22
GeneDx 0 1 11 0 1 13
Labcorp Genetics (formerly Invitae), Labcorp 0 0 0 3 4 7
CeGaT Center for Human Genetics Tuebingen 0 0 0 5 1 6
OMIM 5 0 0 0 0 5
Breakthrough Genomics, Breakthrough Genomics 0 0 0 0 5 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 1 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 1 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 1
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 0 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 0 1 0 0 1
Centre for Addiction & Mental Health, Centre for Addiction & Mental Health 0 0 1 0 0 1

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