ClinVar Miner

Variants in gene ADAMTS2

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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 not provided total
55 44 600 1036 152 7 1740

Condition and significance breakdown #

Total conditions: 7
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Ehlers-Danlos syndrome, dermatosparaxis type 55 42 511 941 103 7 1559
not provided 1 2 137 129 79 0 334
not specified 0 0 12 34 32 0 74
Ehlers-Danlos syndrome 0 0 47 12 14 0 73
Inborn genetic diseases 0 0 55 5 0 0 60
ADAMTS2-related condition 0 0 5 26 3 0 34
See cases 0 0 2 0 0 0 2

Submitter and significance breakdown #

Total submitters: 35
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 53 12 369 907 65 0 1406
GeneDx 1 2 95 151 94 0 343
Natera, Inc. 1 3 143 63 42 0 252
Illumina Laboratory Services, Illumina 1 1 127 19 49 0 197
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 47 12 14 0 73
Ambry Genetics 0 0 55 5 0 0 60
CeGaT Center for Human Genetics Tuebingen 0 0 30 20 2 0 52
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 1 2 9 5 24 0 41
PreventionGenetics, part of Exact Sciences 0 0 5 26 3 0 34
Genome-Nilou Lab 0 0 0 0 29 0 29
Mayo Clinic Laboratories, Mayo Clinic 0 0 24 0 0 0 24
Fulgent Genetics, Fulgent Genetics 0 1 17 4 1 0 23
Myriad Genetics, Inc. 1 21 0 0 0 0 22
Eurofins Ntd Llc (ga) 0 0 6 1 8 0 15
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
Counsyl 0 4 2 0 0 0 6
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 5 5
Mendelics 1 1 0 0 1 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 3 0 0 0 3
OMIM 2 0 0 0 0 0 2
Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory, Cincinnati Children's Hospital Medical Center 0 0 0 0 2 0 2
Bionano Laboratories 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 2 0 0 0 2
GenomeConnect, ClinGen 0 0 0 0 0 2 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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 0 0 1 0 0 1
Pars Genome Lab 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 0 1 0 0 0 1

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