ClinVar Miner

Variants in gene DOK7

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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 not provided total
77 57 371 533 118 2 1069

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 10 66 15 288 462 42 0 873
not provided 14 9 116 67 81 0 278
not specified 0 0 8 34 33 0 65
Inborn genetic diseases 2 0 51 1 0 0 54
Fetal akinesia deformation sequence 3 17 32 1 0 3 0 52
Congenital myasthenic syndrome 10 22 9 9 0 2 0 40
Congenital myasthenic syndrome 10; Fetal akinesia deformation sequence 3 2 0 8 2 0 2 13
Congenital myasthenic syndrome 5 6 1 0 0 1 12
Fetal akinesia deformation sequence 1 4 1 4 0 2 0 11
DOK7-related condition 3 1 1 0 0 0 5
Abnormality of the musculature 1 1 0 0 0 0 2
Rett syndrome 0 1 0 0 0 0 1
See cases 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 66 15 288 463 42 0 874
GeneDx 8 6 31 66 88 0 199
Revvity Omics, Revvity Omics 9 2 79 0 1 0 91
Baylor Genetics 20 29 8 0 0 0 55
Ambry Genetics 2 0 51 1 0 0 54
Preventiongenetics, part of Exact Sciences 3 1 1 18 27 0 50
Eurofins Ntd Llc (ga) 2 0 22 2 11 0 37
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 5 6 7 2 1 0 21
Genetic Services Laboratory, University of Chicago 4 1 0 8 6 0 19
Athena Diagnostics Inc 3 0 3 2 6 0 14
CeGaT Center for Human Genetics Tuebingen 3 0 2 6 1 0 12
Fulgent Genetics, Fulgent Genetics 2 0 7 2 0 0 11
OMIM 9 0 0 0 0 0 9
Mendelics 4 1 0 0 2 0 7
Mayo Clinic Laboratories, Mayo Clinic 1 0 5 0 0 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 4 0 0 0 4
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 2 0 1 0 0 0 3
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 0 3 0 3
Kariminejad - Najmabadi Pathology & Genetics Center 1 1 1 0 0 0 3
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 3 0 0 3
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Hadassah Hebrew University Medical Center 0 2 0 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 1 1 0 0 0 0 2
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 2 0 0 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 1 1 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 2 0 2
3billion 1 1 0 0 0 0 2
Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine 1 1 0 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 1 0 0 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 1 0 0 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1 0 0 0 0 0 1
Institute of Human Genetics, Cologne University 0 1 0 0 0 0 1
MGZ Medical Genetics Center 0 1 0 0 0 0 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 0 1 0 1
GeneReviews 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 1 0 0 0 0 0 1
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 1 0 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 1 0 0 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 0 1 0 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 1 0 1
Institute of Human Genetics, University of Leipzig Medical Center 1 0 0 0 0 0 1
GenomeConnect, ClinGen 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 0 1 0 1
Neuromuscular Department, Shariati Hospital, Tehran University of Medical Sciences 0 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 1 0 0 0 0 0 1

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