ClinVar Miner

Variants in gene JMJD1C

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 association total
3 2 478 191 33 1 707

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign association total
Early myoclonic encephalopathy 0 0 471 162 31 0 664
not provided 3 2 7 40 2 0 54
Autism spectrum disorder 0 0 0 0 0 1 1
See cases 0 0 1 0 0 0 1
not specified 0 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 10
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign association total
Invitae 0 0 471 190 32 0 693
GeneDx 3 2 0 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 0 0 0 4
Lineagen, Inc 0 0 2 0 0 0 2
OMIM 0 0 1 0 0 0 1
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 1 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 1 0 0 0 1
New York Genome Center 0 0 1 0 0 0 1

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