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 77 106 24 196

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic uncertain significance likely benign benign total
Neuronal Ceroid-Lipofuscinosis, Recessive 0 49 56 8 113
not provided 0 17 26 13 51
not specified 0 0 28 13 40
Neuronal ceroid lipofuscinosis 1 14 2 1 18
Seizures 0 0 8 1 9
Ceroid lipofuscinosis neuronal 4B autosomal dominant 3 0 0 0 3

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic uncertain significance likely benign benign total
Illumina Clinical Services Laboratory,Illumina 0 49 56 8 113
GeneDx 0 11 33 16 60
Invitae 1 14 23 7 45
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

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