ClinVar Miner

Variants in gene DOK7

Minimum submission review status: Collection method:
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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 total
43 14 220 117 69 429

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Pena-Shokeir syndrome type I; Myasthenia, limb-girdle, familial 26 7 195 64 24 316
not provided 8 3 34 33 31 106
not specified 0 0 3 35 34 63
Myasthenia, limb-girdle, familial 21 4 6 0 0 31
Pena-Shokeir syndrome type I 4 1 5 0 1 11
Congenital myasthenic syndrome 2 0 1 0 0 3
Fetal akinesia deformation sequence 3 2 0 0 0 1 3
Inborn genetic diseases 2 0 0 0 0 2

Submitter and significance breakdown #

Total submitters: 31
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 26 7 195 81 26 335
GeneDx 4 2 9 17 39 71
PreventionGenetics, PreventionGenetics 0 0 0 20 30 50
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 2 0 23 2 12 39
Genetic Services Laboratory, University of Chicago 3 1 0 8 7 19
Baylor Genetics 9 0 6 0 0 15
Athena Diagnostics Inc 3 0 2 2 5 12
OMIM 10 0 0 0 0 10
Mendelics 2 1 1 0 1 5
CeGaT Praxis fuer Humangenetik Tuebingen 2 0 0 2 0 4
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 4 0 0 4
Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics,Cincinnati Children's Hospital Medical Center 0 0 0 0 2 2
Ambry Genetics 2 0 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 1 0 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 0 0 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 1 0 0 0 0 1
Integrated Genetics/Laboratory Corporation of America 1 0 0 0 0 1
GeneReviews 1 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 0 0 1 0 0 1
Institute of Human Genetics, Klinikum rechts der Isar 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 1 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 1 0 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 1 0 0 1
Diagnostics Lab (ASPIRE), CSIR - Centre for Cellular and Molecular Biology 1 0 0 0 0 1

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