ClinVar Miner

Variants in gene combination DNM1, LOC113839516

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 total
3 11 59 53 13 129

Condition and significance breakdown #

Total conditions: 6
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Developmental and epileptic encephalopathy, 31 2 8 37 45 8 99
not provided 0 3 19 7 8 36
Inborn genetic diseases 0 1 8 6 3 18
not specified 0 0 0 3 4 7
DNM1-related condition 0 1 0 3 0 4
Developmental and epileptic encephalopathy 31B 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 24
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 0 2 31 44 8 85
GeneDx 0 2 12 8 11 33
Ambry Genetics 0 1 8 6 3 18
Revvity Omics, Revvity 0 1 4 0 0 5
CeGaT Center for Human Genetics Tuebingen 0 0 3 2 0 5
PreventionGenetics, part of Exact Sciences 0 1 0 3 0 4
Baylor Genetics 0 1 2 0 0 3
OMIM 2 0 0 0 0 2
Athena Diagnostics Inc 0 0 0 0 1 1
Genetic Services Laboratory, University of Chicago 0 0 0 0 1 1
MGZ Medical Genetics Center 0 1 0 0 0 1
Fulgent Genetics, Fulgent Genetics 0 0 0 1 0 1
Duke University Health System Sequencing Clinic, Duke University Health System 1 0 0 0 0 1
NeuroMeGen, Hospital Clinico Santiago de Compostela 0 1 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 1 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 1 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 1 0 0 1
Department of Laboratory Medicine, Yonsei University College of Medicine 0 1 0 0 0 1
3billion 0 0 1 0 0 1
DASA 0 1 0 0 0 1
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 0 0 1 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 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.