ClinVar Miner

Variants in gene DOCK7

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Minimum submission review status: Collection method:
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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
18 15 388 156 20 590

Condition and significance breakdown #

Total conditions: 5
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Epileptic encephalopathy, early infantile, 23 16 8 379 132 18 551
not provided 2 6 18 40 10 75
not specified 0 0 2 0 4 6
Inborn genetic diseases 1 1 0 0 0 2
Seizures 0 0 2 0 0 2

Submitter and significance breakdown #

Total submitters: 16
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 13 4 374 152 19 562
Athena Diagnostics Inc 0 0 4 2 12 18
CeGaT Praxis fuer Humangenetik Tuebingen 1 5 10 2 0 18
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 4 1 2 8
Baylor Genetics 0 0 7 0 0 7
OMIM 4 0 0 0 0 4
Genetic Services Laboratory, University of Chicago 0 0 2 0 0 2
Ambry Genetics 1 1 0 0 0 2
Mendelics 0 2 0 0 0 2
Fulgent Genetics,Fulgent Genetics 0 0 2 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 2 0 0 2
New York Genome Center 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 0 0 0 1 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 0 0 0 0 1

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