ClinVar Miner

Variants in gene ADAMTS2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
70 85 820 1130 158 35 2086

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, dermatosparaxis type 70 81 611 1016 104 11 1769
not provided 1 5 211 164 77 0 434
not specified 0 0 118 124 49 0 279
Inborn genetic diseases 0 0 188 7 0 0 195
Ehlers-Danlos syndrome 0 0 47 12 14 0 73
ADAMTS2-related disorder 0 0 9 30 3 0 42
Thyroid cancer, nonmedullary, 1 0 0 0 0 0 6 6
Ovarian serous cystadenocarcinoma 0 0 0 0 0 5 5
Acute myeloid leukemia 0 0 0 0 0 3 3
Cervical cancer 0 0 0 0 0 3 3
Sarcoma 0 0 0 0 0 3 3
Clear cell carcinoma of kidney 0 0 0 0 0 2 2
Familial cancer of breast 0 0 0 0 0 2 2
See cases 0 0 2 0 0 0 2
Uterine corpus endometrial carcinoma 0 0 0 0 0 2 2
Gastric cancer 0 0 0 0 0 1 1
Melanoma 0 0 0 0 0 1 1
Nonpapillary renal cell carcinoma 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 1 1
Thymoma 0 0 0 0 0 1 1
Uterine carcinosarcoma 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 43
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Labcorp Genetics (formerly Invitae), Labcorp 65 15 394 981 66 0 1521
GeneDx 1 2 135 151 94 0 383
Natera, Inc. 1 23 229 67 42 0 362
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 4 3 115 98 37 0 257
Ambry Genetics 0 0 188 7 0 0 195
Illumina Laboratory Services, Illumina 1 1 119 18 48 0 187
Mayo Clinic Laboratories, Mayo Clinic 1 2 68 39 32 0 142
CeGaT Center for Human Genetics Tuebingen 0 0 39 34 2 0 75
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 47 12 14 0 73
Fulgent Genetics, Fulgent Genetics 1 15 24 4 1 0 45
PreventionGenetics, part of Exact Sciences 0 0 9 30 3 0 42
Breakthrough Genomics, Breakthrough Genomics 0 0 6 24 0 0 30
Genome-Nilou Lab 0 0 0 0 29 0 29
Dr. Peter K. Rogan Lab, Western University 0 0 0 0 0 24 24
Myriad Genetics, Inc. 1 22 0 0 0 0 23
Eurofins Ntd Llc (ga) 0 0 6 1 8 0 15
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 10 0 0 0 12
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 0 0 2 10 0 12
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 0 0 0 10 0 10
Revvity Omics, Revvity 1 1 6 0 0 0 8
Baylor Genetics 0 0 7 0 0 0 7
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 7 7
Counsyl 0 4 2 0 0 0 6
Laboratory of Genetics, Children's Clinical University Hospital Latvia 0 0 0 2 4 0 6
GenomeConnect, ClinGen 0 0 0 0 0 4 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
Mendelics 1 1 0 0 1 0 3
Bionano Laboratories 0 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 2 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 1 0 2
OMIM 2 0 0 0 0 0 2
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 0 1 0 0 0 1
Dasa 0 1 0 0 0 0 1
Department of Genetics, Suzhou Beikang Medical Laboratory 0 1 0 0 0 0 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 0 0 0 1
MVZ Medizinische Genetik Mainz 0 1 0 0 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 0 1 0 0 0 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 1 0 0 0 1

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