ClinVar Miner

Variants in gene DNAJC5

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 0 132 110 72 251

Condition and significance breakdown #

Total conditions: 6
Download table as spreadsheet
Condition pathogenic uncertain significance likely benign benign total
Neuronal ceroid lipofuscinosis 4B 3 83 4 58 148
Neuronal Ceroid-Lipofuscinosis, Recessive 0 49 55 8 112
Neuronal ceroid lipofuscinosis 1 27 17 7 52
not specified 0 0 28 13 40
not provided 0 18 14 7 38
Seizures 0 0 8 1 9

Submitter and significance breakdown #

Total submitters: 12
Download table as spreadsheet
Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 94 58 59 156
GeneDx 0 11 33 16 60
Invitae 1 27 25 7 60
Ambry Genetics 0 0 8 1 9
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 4 1 1 6
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 1 1 3 5
PreventionGenetics,PreventionGenetics 0 0 1 3 4
Athena Diagnostics Inc 0 0 0 3 3
Research Unit for Rare Diseases,1st Faculty of Medicine, Charles University in Prague 3 0 0 0 3
OMIM 2 0 0 0 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 0 1
New York Genome Center 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.