ClinVar Miner

Variants in gene DNM1

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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
10 21 98 144 54 311

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Epileptic encephalopathy, early infantile, 31 8 8 79 70 26 191
not provided 1 11 14 34 25 85
not specified 0 0 2 55 10 66
History of neurodevelopmental disorder 0 1 6 16 6 29
Inborn genetic diseases 4 1 1 0 0 6

Submitter and significance breakdown #

Total submitters: 23
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 2 4 73 88 29 196
GeneDx 1 8 9 62 29 109
Ambry Genetics 4 2 7 16 6 35
CeGaT Praxis fuer Humangenetik Tuebingen 1 1 4 1 0 7
Athena Diagnostics Inc 0 0 1 2 3 6
OMIM 5 0 0 0 0 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 3 0 4
Institute of Human Genetics, University of Leipzig Medical Center 0 1 2 0 0 3
Baylor Genetics 0 1 1 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 1 0 1 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 0 0 2
Mendelics 0 0 1 0 0 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 1 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 1 0 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 1 0 0 0 0 1
Institute of Experimental Endocrinology,Slovak Academy of Sciences 1 0 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 0 0 1
Breda Genetics srl 0 0 1 0 0 1
Pediatrics, MediClubGeorgia 1 0 0 0 0 1

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