ClinVar Miner

Variants in gene JMJD1C

Minimum submission review status: Collection method:
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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 association not provided total
3 2 847 437 68 1 2 1335

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Early myoclonic encephalopathy 0 0 780 413 60 0 0 1253
not provided 3 2 35 23 12 0 2 77
Inborn genetic diseases 0 0 68 2 0 0 0 70
JMJD1C-related condition 0 0 9 20 6 0 0 35
JMJD1C-associated Neurodevelopmental Disorder 0 0 5 0 0 0 0 5
not specified 0 0 3 0 2 0 0 5
Neurodevelopmental disorder 0 0 2 0 0 0 0 2
See cases 0 0 2 0 0 0 0 2
Autism spectrum disorder 0 0 0 0 0 1 0 1
Benign familial infantile epilepsy 0 0 0 1 0 0 0 1
Hepatoblastoma 0 0 1 0 0 0 0 1
JMJD1C-related Neurodevelopmental disorder 0 0 1 0 0 0 0 1
TELO2-related intellectual disability-neurodevelopmental disorder 0 0 1 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 28
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association not provided total
Invitae 0 0 780 422 61 0 0 1263
Ambry Genetics 0 0 68 2 0 0 0 70
PreventionGenetics, part of Exact Sciences 0 0 9 20 6 0 0 35
CeGaT Center for Human Genetics Tuebingen 0 0 10 11 5 0 0 26
GeneDx 3 2 0 0 5 0 0 10
New York Genome Center 0 0 10 0 0 0 0 10
Revvity Omics, Revvity 0 0 8 0 0 0 0 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 0 6 0 0 0 0 6
Mendelics 0 0 2 0 2 0 0 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 2 1 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 1 2 0 0 0 3
Bionano Laboratories 0 0 2 0 0 0 0 2
OMIM 0 0 1 0 0 0 0 1
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 0 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 1 0 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 1 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 1 0 0 0 0 1
Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research 0 0 0 1 0 0 0 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 1 0 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 1 0 0 0 0 1
GenomeConnect - Brain Gene Registry 0 0 0 0 0 0 1 1
Molecular Oncology - Human Genetics Lab, University of Sao Paulo 0 0 1 0 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 1 0 0 0 0 1

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