ClinVar Miner

Variants in gene UNC13D

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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
118 68 577 774 85 10 1504

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Familial hemophagocytic lymphohistiocytosis 3 112 53 503 739 66 5 1407
not provided 16 7 49 23 39 5 128
not specified 0 0 44 30 34 0 102
Inborn genetic diseases 0 0 90 3 0 0 93
Autoinflammatory syndrome 7 8 44 9 5 0 73
UNC13D-related disorder 1 3 7 28 3 0 42
Familial hemophagocytic lymphohistiocytosis 9 6 1 0 1 0 17
See cases 0 1 3 0 0 0 4

Submitter and significance breakdown #

Total submitters: 53
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 101 28 429 728 59 0 1345
Illumina Laboratory Services, Illumina 2 1 86 8 20 0 117
Ambry Genetics 0 0 90 3 0 0 93
PreventionGenetics, part of Exact Sciences 1 3 7 39 28 0 78
Genome Diagnostics Laboratory, The Hospital for Sick Children 7 8 44 9 5 0 73
GeneDx 8 4 25 1 17 0 55
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 9 6 28 9 2 0 54
Breakthrough Genomics, Breakthrough Genomics 0 0 6 12 30 0 48
Fulgent Genetics, Fulgent Genetics 11 17 7 3 0 0 38
CeGaT Center for Human Genetics Tuebingen 3 1 9 10 2 0 25
Genetic Services Laboratory, University of Chicago 1 1 13 8 1 0 24
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 17 0 17
Revvity Omics, Revvity 3 1 12 0 0 0 16
Mayo Clinic Laboratories, Mayo Clinic 1 0 11 0 0 0 12
3billion 5 1 5 1 0 0 12
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 5 5 0 10
Mendelics 4 0 1 3 2 0 10
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 1 0 1 3 5 0 10
Baylor Genetics 1 0 8 0 0 0 9
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 1 0 1 3 4 0 9
OMIM 8 0 0 0 0 0 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 1 1 4 0 6
Department of Pathology and Laboratory Medicine, Sinai Health System 3 1 2 0 0 0 6
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 6 0 0 0 6
Genome-Nilou Lab 0 0 0 0 6 0 6
Eurofins Ntd Llc (ga) 2 0 3 0 0 0 5
GeneReviews 0 0 0 0 0 5 5
Neuberg Centre For Genomic Medicine, NCGM 1 2 2 0 0 0 5
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 0 3 0 1 0 4
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital 1 1 2 0 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 3 0 0 0 4
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 1 1 1 0 0 0 3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 1 0 1 0 1 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 2 0 0 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 1 0 1 0 0 0 2
Clinical Genetics and Genomics, Karolinska University Hospital 2 0 0 0 0 0 2
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 2 0 0 0 2
Institute of Human Genetics, University of Leipzig Medical Center 2 0 0 0 0 0 2
New York Genome Center 0 0 2 0 0 0 2
Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine 0 2 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 1 0 0 0 0 0 1
Centogene AG - the Rare Disease Company 1 0 0 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 1 0 0 0 0 1
Clinical laboratory, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and Technology 0 1 0 0 0 0 1
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 0 0 1 0 0 1
GenomeConnect - CureCADASIL 0 0 0 0 0 1 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 1 0 0 0 0 0 1
UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini 0 0 0 1 0 0 1
DASA 1 0 0 0 0 0 1
Growth and Development Research Center, Tehran University of Medical Sciences 0 1 0 0 0 0 1

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